UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
811532
ClinVar RCV Id:
RCV002068772
dbSNP Id:
rs111642750
ExAC:
1:29320013 G / A
gnomAD v2:
1-29320013-G-A
gnomAD v3:
1-28993501-G-A
gnomAD v4:
1-28993501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28993501G>A , CM000663.2:g.28993501G>A | GRCh38 |
| NC_000001.10:g.29320013G>A , CM000663.1:g.29320013G>A | GRCh37 |
| NC_000001.9:g.29192600G>A | NCBI36 |
| NG_013344.1:g.111411G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706361.1:c.640G>A | ENSP00000516349.1:p.Val214Ile | |
| ENST00000343067.9:c.640G>A MANE Select | ENSP00000345259.4:p.Val214Ile | |
| ENST00000349460.9:c.640G>A | ENSP00000317597.8:p.Val214Ile | |
| ENST00000373797.2:c.640G>A | ENSP00000362903.1:p.Val214Ile | |
| ENST00000482464.6:n.722G>A | ||
| ENST00000642643.1:c.467G>A | ||
| ENST00000642937.2:c.13G>A | ENSP00000494212.1:p.Val5Ile | |
| ENST00000643155.1:c.*234G>A | ENSP00000496751.1:n.*234G>A | |
| ENST00000643173.1:c.640G>A | ENSP00000494244.1:p.Val214Ile | |
| ENST00000643302.1:n.567G>A | ||
| ENST00000643604.1:c.640G>A | ENSP00000494435.1:p.Val214Ile | |
| ENST00000644342.1:c.13G>A | ENSP00000495138.1:p.Val5Ile | |
| ENST00000644600.1:c.640G>A | ENSP00000494945.1:p.Val214Ile | |
| ENST00000644780.1:c.469-3714G>A | ENSP00000494042.1:n.469-3714G>A | |
| ENST00000645111.1:n.580G>A | ||
| ENST00000645184.1:c.640G>A | ENSP00000495300.1:p.Val214Ile | |
| ENST00000645999.1:n.567G>A | ||
| ENST00000646189.1:c.13G>A | ENSP00000496138.1:p.Val5Ile | |
| ENST00000646260.1:c.640G>A | ENSP00000496675.1:p.Val214Ile | |
| ENST00000646800.1:c.13G>A | ENSP00000493575.1:p.Val5Ile | |
| ENST00000647103.1:c.13G>A | ENSP00000496326.1:p.Val5Ile | |
| ENST00000647918.1:n.738G>A | ||
| ENST00000648181.1:c.468+5596G>A | ENSP00000498195.1:n.468+5596G>A | |
| ENST00000648891.1:c.640G>A | ENSP00000497843.1:p.Val214Ile | |
| ENST00000649674.1:n.854G>A | ||
| ENST00000649717.1:c.13G>A | ENSP00000497875.1:p.Val5Ile | |
| ENST00000650265.1:c.640G>A | ENSP00000498003.1:p.Val214Ile | |
| ENST00000343067.8:c.640G>A | ENSP00000345259.4:p.Val214Ile | |
| ENST00000347529.7:c.640G>A | ENSP00000290100.6:p.Val214Ile | |
| ENST00000349460.8:c.13G>A | ENSP00000317597.7:p.Val5Ile | |
| ENST00000356093.6:c.13G>A | ENSP00000348397.3:p.Val5Ile | |
| ENST00000373797.1:c.640G>A | ENSP00000362903.1:p.Val214Ile | |
| ENST00000373798.5:c.640G>A | ENSP00000362904.1:p.Val214Ile | |
| ENST00000373800.7:c.13G>A | ENSP00000362906.3:p.Val5Ile | |
| NM_001166005.1:c.640G>A | NP_001159477.1:p.Val214Ile | |
| NM_001166006.1:c.640G>A | NP_001159478.1:p.Val214Ile | |
| NM_001166007.1:c.13G>A | NP_001159479.1:p.Val5Ile | |
| NM_004437.3:c.13G>A | NP_004428.1:p.Val5Ile | |
| NM_203342.2:c.13G>A | NP_976217.1:p.Val5Ile | |
| NM_203343.2:c.640G>A | NP_976218.1:p.Val214Ile | |
| XM_005245753.1:c.640G>A | XP_005245810.1:p.Val214Ile | |
| XM_005245757.1:c.640G>A | XP_005245814.1:p.Val214Ile | |
| XM_005245760.1:c.640G>A | XP_005245817.1:p.Val214Ile | |
| XM_005245761.1:c.640G>A | XP_005245818.1:p.Val214Ile | |
| XM_005245763.1:c.640G>A | XP_005245820.1:p.Val214Ile | |
| XM_005245764.1:c.640G>A | XP_005245821.1:p.Val214Ile | |
| XM_005245765.1:c.640G>A | XP_005245822.1:p.Val214Ile | |
| XM_005245767.3:c.640G>A | XP_005245824.1:p.Val214Ile | |
| XM_005245768.1:c.640G>A | XP_005245825.1:p.Val214Ile | |
| XM_005245769.1:c.640G>A | XP_005245826.1:p.Val214Ile | |
| XM_005245770.1:c.640G>A | XP_005245827.1:p.Val214Ile | |
| XM_005245772.3:c.640G>A | XP_005245829.1:p.Val214Ile | |
| XM_005245773.3:c.640G>A | XP_005245830.1:p.Val214Ile | |
| XM_005245774.1:c.640G>A | XP_005245831.1:p.Val214Ile | |
| XM_006710434.1:c.640G>A | XP_006710497.1:p.Val214Ile | |
| XM_006710439.1:c.640G>A | XP_006710502.1:p.Val214Ile | |
| XM_011540956.1:c.640G>A | XP_011539258.1:p.Val214Ile | |
| XM_011540957.1:c.640G>A | XP_011539259.1:p.Val214Ile | |
| XM_011540958.1:c.640G>A | XP_011539260.1:p.Val214Ile | |
| XM_011540959.1:c.640G>A | XP_011539261.1:p.Val214Ile | |
| XM_011540960.1:c.640G>A | XP_011539262.1:p.Val214Ile | |
| XM_011540961.1:c.640G>A | XP_011539263.1:p.Val214Ile | |
| XM_011540962.1:c.640G>A | XP_011539264.1:p.Val214Ile | |
| XM_011540963.1:c.640G>A | XP_011539265.1:p.Val214Ile | |
| XM_011540964.1:c.13G>A | XP_011539266.1:p.Val5Ile | |
| XM_011540965.1:c.640G>A | XP_011539267.1:p.Val214Ile | |
| XM_011540966.1:c.640G>A | XP_011539268.1:p.Val214Ile | |
| XM_005245772.4:c.640G>A | XP_005245829.1:p.Val214Ile | |
| XM_005245773.4:c.640G>A | XP_005245830.1:p.Val214Ile | |
| XM_011540963.2:c.640G>A | XP_011539265.1:p.Val214Ile | |
| XM_011540965.3:c.640G>A | XP_011539267.1:p.Val214Ile | |
| XM_017000581.1:c.640G>A | XP_016856070.1:p.Val214Ile | |
| XM_017000582.1:c.640G>A | XP_016856071.1:p.Val214Ile | |
| XM_017000583.1:c.640G>A | XP_016856072.1:p.Val214Ile | |
| XM_017000584.2:c.640G>A | XP_016856073.1:p.Val214Ile | |
| XM_017000585.2:c.640G>A | XP_016856074.1:p.Val214Ile | |
| XM_017000586.1:c.640G>A | XP_016856075.1:p.Val214Ile | |
| XM_017000587.1:c.640G>A | XP_016856076.1:p.Val214Ile | |
| XM_017000588.1:c.640G>A | XP_016856077.1:p.Val214Ile | |
| XM_017000589.1:c.640G>A | XP_016856078.1:p.Val214Ile | |
| XM_017000590.1:c.640G>A | XP_016856079.1:p.Val214Ile | |
| XM_017000591.1:c.640G>A | XP_016856080.1:p.Val214Ile | |
| XM_017000592.1:c.640G>A | XP_016856081.1:p.Val214Ile | |
| XM_017000593.1:c.13G>A | XP_016856082.1:p.Val5Ile | |
| XM_017000594.1:c.13G>A | XP_016856083.1:p.Val5Ile | |
| XM_017000595.1:c.13G>A | XP_016856084.1:p.Val5Ile | |
| XM_017000596.1:c.13G>A | XP_016856085.1:p.Val5Ile | |
| XM_017000597.1:c.13G>A | XP_016856086.1:p.Val5Ile | |
| XM_017000598.1:c.13G>A | XP_016856087.1:p.Val5Ile | |
| XM_017000599.1:c.13G>A | XP_016856088.1:p.Val5Ile | |
| XM_017000600.1:c.13G>A | XP_016856089.1:p.Val5Ile | |
| XM_017000602.1:c.13G>A | XP_016856091.1:p.Val5Ile | |
| XM_017000603.1:c.13G>A | XP_016856092.1:p.Val5Ile | |
| XM_017000604.1:c.13G>A | XP_016856093.1:p.Val5Ile | |
| XM_024453880.1:c.13G>A | XP_024309648.1:p.Val5Ile | |
| NM_001166007.2:c.13G>A | NP_001159479.1:p.Val5Ile | |
| NM_001376013.1:c.640G>A MANE Select | NP_001362942.1:p.Val214Ile | |
| NM_001376014.1:c.640G>A | NP_001362943.1:p.Val214Ile | |
| NM_001376015.1:c.640G>A | NP_001362944.1:p.Val214Ile | |
| NM_001376016.1:c.640G>A | NP_001362945.1:p.Val214Ile | |
| NM_001376017.1:c.640G>A | NP_001362946.1:p.Val214Ile | |
| NM_001376018.1:c.640G>A | NP_001362947.1:p.Val214Ile | |
| NM_001376019.1:c.640G>A | NP_001362948.1:p.Val214Ile | |
| NM_001376020.1:c.640G>A | NP_001362949.1:p.Val214Ile | |
| NM_001376021.1:c.640G>A | NP_001362950.1:p.Val214Ile | |
| NM_001376022.1:c.13G>A | NP_001362951.1:p.Val5Ile | |
| NM_001376023.1:c.13G>A | NP_001362952.1:p.Val5Ile | |
| NM_001376024.1:c.13G>A | NP_001362953.1:p.Val5Ile | |
| NM_001376025.1:c.13G>A | NP_001362954.1:p.Val5Ile | |
| NM_001376026.1:c.13G>A | NP_001362955.1:p.Val5Ile | |
| NM_001376027.1:c.13G>A | NP_001362956.1:p.Val5Ile | |
| NM_001376028.1:c.13G>A | NP_001362957.1:p.Val5Ile | |
| NM_004437.4:c.13G>A | NP_004428.1:p.Val5Ile | |
| NM_203343.3:c.640G>A | NP_976218.1:p.Val214Ile | |
| NM_001166005.2:c.640G>A | NP_001159477.1:p.Val214Ile | |
| NM_001166006.2:c.640G>A | NP_001159478.1:p.Val214Ile | |
| NM_203342.3:c.13G>A | NP_976217.1:p.Val5Ile |