Linked Data
ClinVar Variation Id:
257874
dbSNP Id:
rs72655984
ExAC:
7:21611533 T / A
gnomAD v2:
7-21611533-T-A
gnomAD v3:
7-21571915-T-A
gnomAD v4:
7-21571915-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21571915T>A , CM000669.2:g.21571915T>A | GRCh38 |
| NC_000007.13:g.21611533T>A , CM000669.1:g.21611533T>A | GRCh37 |
| NC_000007.12:g.21578058T>A | NCBI36 |
| NG_012886.2:g.33701T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.1535T>A MANE Select | ENSP00000475939.1:p.Met512Lys | |
| ENST00000328843.10:c.1535T>A | ENSP00000330671.7:p.Met512Lys | |
| ENST00000409508.7:c.1535T>A | ENSP00000475939.1:p.Met512Lys | |
| ENST00000620169.4:c.1535T>A | ENSP00000481693.1:p.Met512Lys | |
| NM_001277115.1:c.1535T>A | NP_001264044.1:p.Met512Lys | |
| XR_927090.1:n.563+1411A>T | ||
| XR_001745114.1:n.2793+1411A>T | ||
| NM_001277115.2:c.1535T>A MANE Select | NP_001264044.1:p.Met512Lys |