Linked Data
dbSNP Id:
rs371230197
ExAC:
1:115226916 T / A
gnomAD v2:
1-115226916-T-A
gnomAD v3:
1-114684295-T-A
gnomAD v4:
1-114684295-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684295T>A , CM000663.2:g.114684295T>A | GRCh38 |
| NC_000001.10:g.115226916T>A , CM000663.1:g.115226916T>A | GRCh37 |
| NC_000001.9:g.115028439T>A | NCBI36 |
| NG_008012.1:g.16261A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.439A>T | ENSP00000358551.4:p.Met147Leu | |
| ENST00000520113.7:c.451A>T MANE Select | ENSP00000430075.3:p.Met151Leu | |
| ENST00000637080.1:c.454A>T | ENSP00000489753.1:p.Met152Leu | |
| ENST00000639077.1:n.116A>T | ||
| ENST00000369538.3:c.538A>T | ENSP00000358551.3:p.Met180Leu | |
| ENST00000485564.3:n.325A>T | ||
| ENST00000520113.6:c.550A>T | ENSP00000430075.2:p.Met184Leu | |
| NM_000036.2:c.550A>T | NP_000027.2:p.Met184Leu | |
| NM_001172626.1:c.538A>T | NP_001166097.1:p.Met180Leu | |
| NM_000036.3:c.451A>T MANE Select | NP_000027.3:p.Met151Leu | |
| NM_001172626.2:c.439A>T | NP_001166097.2:p.Met147Leu |