Linked Data
dbSNP Id:
rs368185598
ExAC:
1:115220016 G / A
gnomAD v2:
1-115220016-G-A
gnomAD v3:
1-114677395-G-A
gnomAD v4:
1-114677395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677395G>A , CM000663.2:g.114677395G>A | GRCh38 |
| NC_000001.10:g.115220016G>A , CM000663.1:g.115220016G>A | GRCh37 |
| NC_000001.9:g.115021539G>A | NCBI36 |
| NG_008012.1:g.23161C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1332C>T | ENSP00000358551.4:p.Ile444= | |
| ENST00000520113.7:c.1344C>T MANE Select | ENSP00000430075.3:p.Ile448= | |
| ENST00000637080.1:c.1127C>T | ENSP00000489753.1:n.1127C>T | |
| ENST00000639077.1:n.1009C>T | ||
| ENST00000369538.3:c.1431C>T | ENSP00000358551.3:p.Ile477= | |
| ENST00000520113.6:c.1443C>T | ENSP00000430075.2:p.Ile481= | |
| NM_000036.2:c.1443C>T | NP_000027.2:p.Ile481= | |
| NM_001172626.1:c.1431C>T | NP_001166097.1:p.Ile477= | |
| NM_000036.3:c.1344C>T MANE Select | NP_000027.3:p.Ile448= | |
| NM_001172626.2:c.1332C>T | NP_001166097.2:p.Ile444= |