Linked Data
ClinVar Variation Id:
1513130
ClinVar RCV Id:
RCV002045834
dbSNP Id:
rs760997445
gnomAD v2:
8-102555498-T-A
gnomAD v3:
8-101543270-T-A
gnomAD v4:
8-101543270-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101543270T>A , CM000670.2:g.101543270T>A | GRCh38 |
| NC_000008.10:g.102555498T>A , CM000670.1:g.102555498T>A | GRCh37 |
| NC_000008.9:g.102624674T>A | NCBI36 |
| NG_011971.1:g.55831T>A | |
| NG_011971.2:g.55831T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.50T>A MANE Select | ENSP00000495564.1:p.Met17Lys | |
| ENST00000251808.7:c.50T>A | ENSP00000251808.3:p.Met17Lys | |
| ENST00000395927.1:c.2T>A | ENSP00000379260.1:p.Met1Lys | |
| ENST00000472106.2:n.378T>A | ||
| NM_024915.3:c.50T>A | NP_079191.2:p.Met17Lys | |
| XM_011517305.1:c.2T>A | XP_011515607.1:p.Met1Lys | |
| XM_011517306.1:c.2T>A | XP_011515608.1:p.Met1Lys | |
| XM_011517307.1:c.50T>A | XP_011515609.1:p.Met17Lys | |
| NM_001330593.1:c.2T>A | NP_001317522.1:p.Met1Lys | |
| XM_011517306.3:c.2T>A | XP_011515608.1:p.Met1Lys | |
| XM_011517307.3:c.50T>A | XP_011515609.1:p.Met17Lys | |
| NM_001330593.2:c.2T>A | NP_001317522.1:p.Met1Lys | |
| NM_024915.4:c.50T>A MANE Select | NP_079191.2:p.Met17Lys |