Linked Data
dbSNP Id:
rs1475026842
gnomAD v2:
1-115222241-G-T
gnomAD v3:
1-114679620-G-T
gnomAD v4:
1-114679620-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114679620G>T , CM000663.2:g.114679620G>T | GRCh38 |
| NC_000001.10:g.115222241G>T , CM000663.1:g.115222241G>T | GRCh37 |
| NC_000001.9:g.115023764G>T | NCBI36 |
| NG_008012.1:g.20936C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.844C>A | ENSP00000358551.4:p.Leu282Met | |
| ENST00000520113.7:c.856C>A MANE Select | ENSP00000430075.3:p.Leu286Met | |
| ENST00000637080.1:c.639C>A | ENSP00000489753.1:n.639C>A | |
| ENST00000639077.1:n.521C>A | ||
| ENST00000369538.3:c.943C>A | ENSP00000358551.3:p.Leu315Met | |
| ENST00000520113.6:c.955C>A | ENSP00000430075.2:p.Leu319Met | |
| NM_000036.2:c.955C>A | NP_000027.2:p.Leu319Met | |
| NM_001172626.1:c.943C>A | NP_001166097.1:p.Leu315Met | |
| NM_000036.3:c.856C>A MANE Select | NP_000027.3:p.Leu286Met | |
| NM_001172626.2:c.844C>A | NP_001166097.2:p.Leu282Met |