Linked Data
ClinVar Variation Id:
181473
ClinVar RCV Id:
RCV000159003
RCV001161537
RCV001184494
RCV001161538
RCV001448251
RCV003998381
RCV004019922
dbSNP Id:
rs730880975
ExAC:
7:151273537 A / G
gnomAD v2:
7-151273537-A-G
gnomAD v3:
7-151576451-A-G
gnomAD v4:
7-151576451-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151576451A>G , CM000669.2:g.151576451A>G | GRCh38 |
| NC_000007.13:g.151273537A>G , CM000669.1:g.151273537A>G | GRCh37 |
| NC_000007.12:g.150904470A>G | NCBI36 |
| NG_007486.1:g.305780T>C | |
| NG_007486.2:g.305781T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.140T>C | ENSP00000420645.3:p.Val47Ala | |
| ENST00000652321.2:c.863T>C | ENSP00000498886.2:p.Val288Ala | |
| ENST00000287878.9:c.866T>C MANE Select | ENSP00000287878.3:p.Val289Ala | |
| ENST00000476632.2:c.143T>C | ENSP00000419493.2:p.Val48Ala | |
| ENST00000491938.6:n.209T>C | ||
| ENST00000492843.6:c.491T>C | ENSP00000419577.2:p.Val164Ala | |
| ENST00000650851.1:n.360T>C | ||
| ENST00000650858.1:c.83T>C | ENSP00000498384.1:p.Val28Ala | |
| ENST00000650948.1:n.981T>C | ||
| ENST00000651188.1:c.*106T>C | ENSP00000498557.1:n.*106T>C | |
| ENST00000651290.1:n.68T>C | ||
| ENST00000651303.1:c.*185T>C | ENSP00000498428.1:n.*185T>C | |
| ENST00000651378.1:c.143T>C | ENSP00000499103.1:p.Val48Ala | |
| ENST00000651764.1:c.734T>C | ENSP00000498796.1:p.Val245Ala | |
| ENST00000651836.1:c.634T>C | ENSP00000499156.1:n.634T>C | |
| ENST00000652047.1:c.731T>C | ENSP00000499111.1:p.Val244Ala | |
| ENST00000652136.1:n.599T>C | ||
| ENST00000652159.1:c.734T>C | ENSP00000499025.1:p.Val245Ala | |
| ENST00000652397.1:c.143T>C | ENSP00000498351.1:p.Val48Ala | |
| ENST00000652572.1:n.247T>C | ||
| ENST00000287878.8:c.866T>C | ENSP00000287878.3:p.Val289Ala | |
| ENST00000392801.6:c.734T>C | ENSP00000376549.2:p.Val245Ala | |
| ENST00000418337.6:c.143T>C | ENSP00000387386.2:p.Val48Ala | |
| ENST00000476632.1:c.143T>C | ENSP00000419493.1:p.Val48Ala | |
| ENST00000483775.1:n.271T>C | ||
| ENST00000488258.5:c.*106T>C | ENSP00000420783.1:n.*106T>C | |
| ENST00000491938.5:n.212T>C | ||
| ENST00000492843.5:c.494T>C | ENSP00000419577.1:p.Val165Ala | |
| ENST00000493872.5:c.*115T>C | ENSP00000417252.1:n.*115T>C | |
| NM_001040633.1:c.734T>C | NP_001035723.1:p.Val245Ala | |
| NM_001304527.1:c.491T>C | NP_001291456.1:p.Val164Ala | |
| NM_001304531.1:c.143T>C | NP_001291460.1:p.Val48Ala | |
| NM_016203.3:c.866T>C | NP_057287.2:p.Val289Ala | |
| NM_024429.1:c.143T>C | NP_077747.1:p.Val48Ala | |
| XM_005250002.2:c.866T>C | XP_005250059.1:p.Val289Ala | |
| XM_005250004.2:c.734T>C | XP_005250061.1:p.Val245Ala | |
| XM_005250006.3:c.494T>C | XP_005250063.1:p.Val165Ala | |
| XM_006716021.2:c.854T>C | XP_006716084.1:p.Val285Ala | |
| XM_011516282.1:c.851T>C | XP_011514584.1:p.Val284Ala | |
| XM_011516283.1:c.854T>C | XP_011514585.1:p.Val285Ala | |
| XM_011516284.1:c.851T>C | XP_011514586.1:p.Val284Ala | |
| XM_011516285.1:c.143T>C | XP_011514587.1:p.Val48Ala | |
| XM_011516286.1:c.119T>C | XP_011514588.1:p.Val40Ala | |
| XM_011516287.1:c.83T>C | XP_011514589.1:p.Val28Ala | |
| NM_001363698.1:c.494T>C | NP_001350627.1:p.Val165Ala | |
| XM_005250002.4:c.866T>C | XP_005250059.1:p.Val289Ala | |
| XM_005250004.4:c.734T>C | XP_005250061.1:p.Val245Ala | |
| XM_005250006.5:c.494T>C | XP_005250063.1:p.Val165Ala | |
| XM_011516285.2:c.143T>C | XP_011514587.1:p.Val48Ala | |
| XM_011516286.2:c.119T>C | XP_011514588.1:p.Val40Ala | |
| XM_017012268.2:c.731T>C | XP_016867757.1:p.Val244Ala | |
| XM_017012269.1:c.863T>C | XP_016867758.1:p.Val288Ala | |
| XM_017012270.1:c.734T>C | XP_016867759.1:p.Val245Ala | |
| XM_017012271.2:c.731T>C | XP_016867760.1:p.Val244Ala | |
| XM_017012272.1:c.731T>C | XP_016867761.1:p.Val244Ala | |
| XM_017012274.2:c.140T>C | XP_016867763.1:p.Val47Ala | |
| XM_017012275.2:c.83T>C | XP_016867764.1:p.Val28Ala | |
| XM_017012276.2:c.140T>C | XP_016867765.1:p.Val47Ala | |
| XM_017012277.2:c.119T>C | XP_016867766.1:p.Val40Ala | |
| XM_017012278.1:c.83T>C | XP_016867767.1:p.Val28Ala | |
| XM_017012279.2:c.83T>C | XP_016867768.1:p.Val28Ala | |
| XM_017012280.2:c.83T>C | XP_016867769.1:p.Val28Ala | |
| XM_017012281.2:c.83T>C | XP_016867770.1:p.Val28Ala | |
| XM_024446786.1:c.734T>C | XP_024302554.1:p.Val245Ala | |
| XM_024446787.1:c.143T>C | XP_024302555.1:p.Val48Ala | |
| XM_024446788.1:c.140T>C | XP_024302556.1:p.Val47Ala | |
| XM_024446789.1:c.143T>C | XP_024302557.1:p.Val48Ala | |
| NM_016203.4:c.866T>C MANE Select | NP_057287.2:p.Val289Ala | |
| NM_001040633.2:c.734T>C | NP_001035723.1:p.Val245Ala | |
| NM_001304527.2:c.491T>C | NP_001291456.1:p.Val164Ala | |
| NM_001304531.2:c.143T>C | NP_001291460.1:p.Val48Ala | |
| NM_001363698.2:c.494T>C | NP_001350627.1:p.Val165Ala | |
| NM_024429.2:c.143T>C | NP_077747.1:p.Val48Ala |