Linked Data
dbSNP Id:
rs144697774
ExAC:
15:75042674 G / A
gnomAD v2:
15-75042674-G-A
gnomAD v3:
15-74750333-G-A
gnomAD v4:
15-74750333-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750333G>A , CM000677.2:g.74750333G>A | GRCh38 |
| NC_000015.9:g.75042674G>A , CM000677.1:g.75042674G>A | GRCh37 |
| NC_000015.8:g.72829727G>A | NCBI36 |
| NG_008431.1:g.32792G>A | |
| NG_008431.2:g.32792G>A | |
| NG_061543.1:g.6489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.595G>A MANE Select | ENSP00000342007.4:p.Val199Ile | |
| ENST00000343932.4:c.595G>A | ENSP00000342007.4:p.Val199Ile | |
| NM_000761.4:c.595G>A | NP_000752.2:p.Val199Ile | |
| NM_000761.5:c.595G>A MANE Select | NP_000752.2:p.Val199Ile |