Linked Data
ClinVar Variation Id:
138516
dbSNP Id:
rs4453725
ExAC:
2:69659126 A / T
gnomAD v2:
2-69659126-A-T
gnomAD v3:
2-69431994-A-T
gnomAD v4:
2-69431994-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69431994A>T , CM000664.2:g.69431994A>T | GRCh38 |
| NC_000002.11:g.69659126A>T , CM000664.1:g.69659126A>T | GRCh37 |
| NC_000002.10:g.69512630A>T | NCBI36 |
| NG_031931.1:g.10635T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410022.7:c.74T>A MANE Select | ENSP00000387219.3:p.Met25Lys | |
| ENST00000303698.7:c.2T>A | ENSP00000306965.3:p.Met1Lys | |
| ENST00000394305.5:c.-214T>A | ENSP00000377842.1:n.-214T>A | |
| ENST00000410022.6:c.74T>A | ENSP00000387219.2:p.Met25Lys | |
| ENST00000419370.5:c.2T>A | ENSP00000405495.1:p.Met1Lys | |
| ENST00000438184.2:c.2T>A | ENSP00000393338.2:p.Met1Lys | |
| ENST00000450796.6:c.-214T>A | ENSP00000415102.2:n.-214T>A | |
| ENST00000471185.5:n.87T>A | ||
| ENST00000484177.5:c.-214T>A | ENSP00000417693.1:n.-214T>A | |
| NM_001002755.2:c.74T>A | NP_001002755.1:p.Met25Lys | |
| NM_001002756.2:c.-214T>A | NP_001002756.1:n.-214T>A | |
| NM_015700.3:c.2T>A | NP_056515.2:p.Met1Lys | |
| NR_045631.1:n.280T>A | ||
| NR_045632.1:n.280T>A | ||
| XM_017003808.2:c.2T>A | XP_016859297.1:p.Met1Lys | |
| NM_001002755.4:c.74T>A MANE Select | NP_001002755.1:p.Met25Lys | |
| NM_001374284.1:c.2T>A | NP_001361213.1:p.Met1Lys | |
| NM_015700.4:c.2T>A | NP_056515.2:p.Met1Lys | |
| NR_045631.2:n.87T>A | ||
| NR_045632.2:n.87T>A |