Linked Data
dbSNP Id:
rs763501719
ExAC:
17:40556820 G / A
gnomAD v2:
17-40556820-G-A
gnomAD v4:
17-42404802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404802G>A , CM000679.2:g.42404802G>A | GRCh38 |
| NC_000017.10:g.40556820G>A , CM000679.1:g.40556820G>A | GRCh37 |
| NC_000017.9:g.37810346G>A | NCBI36 |
| NG_015845.1:g.23519C>T | |
| NG_015845.2:g.23519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1058C>T MANE Select | ENSP00000349541.4:p.Ala353Val | |
| ENST00000357037.5:c.1058C>T | ENSP00000349541.4:p.Ala353Val | |
| NM_012232.5:c.1058C>T | NP_036364.2:p.Ala353Val | |
| NM_012232.6:c.1058C>T MANE Select | NP_036364.2:p.Ala353Val |