Linked Data
ClinVar Variation Id:
1409195
ClinVar RCV Id:
RCV001909695
dbSNP Id:
rs764239787
ExAC:
2:128186331 G / A
gnomAD v2:
2-128186331-G-A
gnomAD v3:
2-127428755-G-A
gnomAD v4:
2-127428755-G-A
COSMIC:
COSM3390913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428755G>A , CM000664.2:g.127428755G>A | GRCh38 |
| NC_000002.11:g.128186331G>A , CM000664.1:g.128186331G>A | GRCh37 |
| NC_000002.10:g.127902801G>A | NCBI36 |
| NG_016323.1:g.15336G>A , LRG_599:g.15336G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1195G>A MANE Select | ENSP00000234071.4:p.Glu399Lys | |
| ENST00000234071.7:c.1195G>A | ENSP00000234071.3:p.Glu399Lys | |
| ENST00000402125.2:c.519G>A | ||
| ENST00000409048.1:c.1297G>A | ENSP00000386679.1:p.Glu433Lys | |
| NM_000312.3:c.1195G>A , LRG_599t1:c.1195G>A | NP_000303.1:p.Glu399Lys | |
| XM_005263715.3:c.1378G>A | XP_005263772.1:p.Glu460Lys | |
| XM_005263716.3:c.1360G>A | XP_005263773.1:p.Glu454Lys | |
| XM_005263717.3:c.1258G>A | XP_005263774.1:p.Glu420Lys | |
| XR_923313.1:n.1332-491C>T | ||
| XM_005263717.4:c.1258G>A | XP_005263774.1:p.Glu420Lys | |
| XM_017004505.1:c.1438G>A | XP_016859994.1:p.Glu480Lys | |
| XM_024453002.1:c.1540G>A | XP_024308770.1:p.Glu514Lys | |
| XM_024453003.1:c.1480G>A | XP_024308771.1:p.Glu494Lys | |
| XM_024453004.1:c.1378G>A | XP_024308772.1:p.Glu460Lys | |
| XM_024453005.1:c.1360G>A | XP_024308773.1:p.Glu454Lys | |
| XM_024453006.1:c.1297G>A | XP_024308774.1:p.Glu433Lys | |
| XR_001739705.1:n.3607-491C>T | ||
| XR_923313.2:n.4043-491C>T | ||
| NM_000312.4:c.1195G>A MANE Select | NP_000303.1:p.Glu399Lys | |
| NM_001375602.1:c.1378G>A | NP_001362531.1:p.Glu460Lys | |
| NM_001375603.1:c.1360G>A | NP_001362532.1:p.Glu454Lys | |
| NM_001375604.1:c.1258G>A | NP_001362533.1:p.Glu420Lys | |
| NM_001375605.1:c.1297G>A | NP_001362534.1:p.Glu433Lys | |
| NM_001375606.1:c.1363G>A | NP_001362535.1:p.Glu455Lys | |
| NM_001375607.1:c.1381G>A | NP_001362536.1:p.Glu461Lys | |
| NM_001375608.1:c.1138G>A | NP_001362537.1:p.Glu380Lys | |
| NM_001375609.1:c.1171G>A | NP_001362538.1:p.Glu391Lys | |
| NM_001375610.1:c.1189G>A | NP_001362539.1:p.Glu397Lys | |
| NM_001375611.1:c.1195G>A | NP_001362540.1:p.Glu399Lys | |
| NM_001375613.1:c.1195G>A | NP_001362542.1:p.Glu399Lys |