Linked Data
ClinVar Variation Id:
662
dbSNP Id:
rs121918146
ExAC:
2:128186061 G / A
gnomAD v2:
2-128186061-G-A
gnomAD v3:
2-127428485-G-A
gnomAD v4:
2-127428485-G-A
PubMed:
PMID:1347608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428485G>A , CM000664.2:g.127428485G>A | GRCh38 |
| NC_000002.11:g.128186061G>A , CM000664.1:g.128186061G>A | GRCh37 |
| NC_000002.10:g.127902531G>A | NCBI36 |
| NG_016323.1:g.15066G>A , LRG_599:g.15066G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.925G>A MANE Select | ENSP00000234071.4:p.Ala309Thr | |
| ENST00000234071.7:c.925G>A | ENSP00000234071.3:p.Ala309Thr | |
| ENST00000402125.2:c.249G>A | ||
| ENST00000409048.1:c.1027G>A | ENSP00000386679.1:p.Ala343Thr | |
| NM_000312.3:c.925G>A , LRG_599t1:c.925G>A | NP_000303.1:p.Ala309Thr | |
| XM_005263715.3:c.1108G>A | XP_005263772.1:p.Ala370Thr | |
| XM_005263716.3:c.1090G>A | XP_005263773.1:p.Ala364Thr | |
| XM_005263717.3:c.988G>A | XP_005263774.1:p.Ala330Thr | |
| XR_923313.1:n.1332-221C>T | ||
| XM_005263717.4:c.988G>A | XP_005263774.1:p.Ala330Thr | |
| XM_017004505.1:c.1168G>A | XP_016859994.1:p.Ala390Thr | |
| XM_024453002.1:c.1270G>A | XP_024308770.1:p.Ala424Thr | |
| XM_024453003.1:c.1210G>A | XP_024308771.1:p.Ala404Thr | |
| XM_024453004.1:c.1108G>A | XP_024308772.1:p.Ala370Thr | |
| XM_024453005.1:c.1090G>A | XP_024308773.1:p.Ala364Thr | |
| XM_024453006.1:c.1027G>A | XP_024308774.1:p.Ala343Thr | |
| XR_001739705.1:n.3607-221C>T | ||
| XR_923313.2:n.4043-221C>T | ||
| NM_000312.4:c.925G>A MANE Select | NP_000303.1:p.Ala309Thr | |
| NM_001375602.1:c.1108G>A | NP_001362531.1:p.Ala370Thr | |
| NM_001375603.1:c.1090G>A | NP_001362532.1:p.Ala364Thr | |
| NM_001375604.1:c.988G>A | NP_001362533.1:p.Ala330Thr | |
| NM_001375605.1:c.1027G>A | NP_001362534.1:p.Ala343Thr | |
| NM_001375606.1:c.1093G>A | NP_001362535.1:p.Ala365Thr | |
| NM_001375607.1:c.1111G>A | NP_001362536.1:p.Ala371Thr | |
| NM_001375608.1:c.868G>A | NP_001362537.1:p.Ala290Thr | |
| NM_001375609.1:c.901G>A | NP_001362538.1:p.Ala301Thr | |
| NM_001375610.1:c.919G>A | NP_001362539.1:p.Ala307Thr | |
| NM_001375611.1:c.925G>A | NP_001362540.1:p.Ala309Thr | |
| NM_001375613.1:c.925G>A | NP_001362542.1:p.Ala309Thr |