Linked Data
dbSNP Id:
rs769973306
ExAC:
11:35282409 G / T
gnomAD v2:
11-35282409-G-T
gnomAD v3:
11-35260862-G-T
gnomAD v4:
11-35260862-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35260862G>T , CM000673.2:g.35260862G>T | GRCh38 |
| NC_000011.9:g.35282409G>T , CM000673.1:g.35282409G>T | GRCh37 |
| NC_000011.8:g.35238985G>T | NCBI36 |
| NG_008727.1:g.163697C>A | |
| NG_008727.2:g.163697C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.*32C>A MANE Select | ENSP00000278379.3:n.*32C>A | |
| ENST00000395750.6:c.*32C>A | ENSP00000379099.2:n.*32C>A | |
| ENST00000395753.6:c.*32C>A | ENSP00000379102.1:n.*32C>A | |
| ENST00000479543.2:n.1309C>A | ||
| ENST00000642171.1:c.*139C>A | ENSP00000495538.1:n.*139C>A | |
| ENST00000642448.1:n.1849C>A | ||
| ENST00000642769.1:c.1023C>A | ||
| ENST00000643000.1:c.*32C>A | ENSP00000495164.1:n.*32C>A | |
| ENST00000643134.1:c.1744C>A | ENSP00000495188.1:p.Leu582Ile | |
| ENST00000643522.1:c.*32C>A | ENSP00000496375.1:n.*32C>A | |
| ENST00000644050.1:c.*32C>A | ENSP00000496123.1:n.*32C>A | |
| ENST00000644299.1:c.*32C>A | ENSP00000494669.1:n.*32C>A | |
| ENST00000644459.1:c.*249C>A | ENSP00000495861.1:n.*249C>A | |
| ENST00000644779.1:c.*32C>A | ENSP00000494258.1:n.*32C>A | |
| ENST00000644868.1:c.1819C>A | ENSP00000496760.1:n.1819C>A | |
| ENST00000645194.1:c.*32C>A | ENSP00000496093.1:n.*32C>A | |
| ENST00000645303.1:c.*32C>A | ENSP00000496667.1:n.*32C>A | |
| ENST00000645542.1:n.463C>A | ||
| ENST00000645634.1:c.*32C>A | ENSP00000493945.1:n.*32C>A | |
| ENST00000646080.1:c.*32C>A | ENSP00000494113.1:n.*32C>A | |
| ENST00000647076.1:c.498C>A | ||
| ENST00000647104.1:c.*32C>A | ENSP00000494025.1:n.*32C>A | |
| ENST00000278379.7:c.*32C>A | ENSP00000278379.3:n.*32C>A | |
| ENST00000395750.5:c.*32C>A | ENSP00000379099.1:n.*32C>A | |
| ENST00000395753.5:c.*32C>A | ENSP00000379102.1:n.*32C>A | |
| ENST00000464522.2:c.219+4665C>A | ENSP00000435406.1:n.219+4665C>A | |
| NM_001195728.2:c.*32C>A | NP_001182657.1:n.*32C>A | |
| NM_001252652.1:c.*32C>A | NP_001239581.1:n.*32C>A | |
| NM_004171.3:c.*32C>A | NP_004162.2:n.*32C>A | |
| XM_005253067.1:c.*32C>A | XP_005253124.1:n.*32C>A | |
| XM_011520284.1:c.*32C>A | XP_011518586.1:n.*32C>A | |
| XM_011520285.1:c.*32C>A | XP_011518587.1:n.*32C>A | |
| XM_011520286.1:c.*32C>A | XP_011518588.1:n.*32C>A | |
| XM_011520287.1:c.*32C>A | XP_011518589.1:n.*32C>A | |
| XM_011520285.2:c.*32C>A | XP_011518587.1:n.*32C>A | |
| XM_017018136.1:c.*32C>A | XP_016873625.1:n.*32C>A | |
| XM_017018137.1:c.*32C>A | XP_016873626.1:n.*32C>A | |
| XM_017018138.1:c.*32C>A | XP_016873627.1:n.*32C>A | |
| XM_017018139.1:c.*32C>A | XP_016873628.1:n.*32C>A | |
| NM_004171.4:c.*32C>A MANE Select | NP_004162.2:n.*32C>A | |
| NM_001195728.3:c.*32C>A | NP_001182657.1:n.*32C>A | |
| NM_001252652.2:c.*32C>A | NP_001239581.1:n.*32C>A |