Linked Data
dbSNP Id:
rs768039962
ExAC:
19:51411940 C / T
gnomAD v2:
19-51411940-C-T
gnomAD v3:
19-50908684-C-T
gnomAD v4:
19-50908684-C-T
COSMIC:
COSM4696640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908684C>T , CM000681.2:g.50908684C>T | GRCh38 |
| NC_000019.9:g.51411940C>T , CM000681.1:g.51411940C>T | GRCh37 |
| NC_000019.8:g.56103752C>T | NCBI36 |
| NG_012154.2:g.7055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.370G>A MANE Select | ENSP00000326159.1:p.Glu124Lys | |
| ENST00000324041.5:c.370G>A | ENSP00000326159.1:p.Glu124Lys | |
| ENST00000431178.2:c.223G>A | ENSP00000399448.2:p.Glu75Lys | |
| ENST00000593885.1:c.85G>A | ENSP00000469769.1:p.Glu29Lys | |
| ENST00000596876.1:n.289G>A | ||
| ENST00000598305.5:c.85G>A | ENSP00000469963.1:p.Glu29Lys | |
| ENST00000599865.5:n.223G>A | ||
| ENST00000602148.1:c.382G>A | ENSP00000472091.1:n.382G>A | |
| NM_001302961.1:c.85G>A | NP_001289890.1:p.Glu29Lys | |
| NM_004917.4:c.370G>A | NP_004908.4:p.Glu124Lys | |
| NR_126566.1:n.363G>A | ||
| XM_005259441.3:c.85G>A | XP_005259498.2:p.Glu29Lys | |
| XM_011527545.1:c.370G>A | XP_011525847.1:p.Glu124Lys | |
| XM_011527546.1:c.370G>A | XP_011525848.1:p.Glu124Lys | |
| XM_011527547.1:c.223G>A | XP_011525849.1:p.Glu75Lys | |
| XM_005259441.4:c.85G>A | XP_005259498.2:p.Glu29Lys | |
| XM_011527545.3:c.370G>A | XP_011525847.1:p.Glu124Lys | |
| XM_011527546.2:c.370G>A | XP_011525848.1:p.Glu124Lys | |
| NM_001302961.2:c.85G>A | NP_001289890.1:p.Glu29Lys | |
| NR_126566.2:n.363G>A | ||
| NM_004917.5:c.370G>A MANE Select | NP_004908.4:p.Glu124Lys |