Linked Data
dbSNP Id:
rs370686447
ExAC:
15:80460394 G / T
gnomAD v2:
15-80460394-G-T
gnomAD v4:
15-80168052-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168052G>T , CM000677.2:g.80168052G>T | GRCh38 |
| NC_000015.9:g.80460394G>T , CM000677.1:g.80460394G>T | GRCh37 |
| NC_000015.8:g.78247449G>T | NCBI36 |
| NG_012833.1:g.20054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.531G>T | ||
| ENST00000684569.1:n.501G>T | ||
| ENST00000561421.6:c.456G>T MANE Select | ENSP00000453347.2:p.Trp152Cys | |
| ENST00000646551.1:n.2083G>T | ||
| ENST00000261755.9:c.456G>T | ENSP00000261755.5:p.Trp152Cys | |
| ENST00000407106.5:c.456G>T | ENSP00000385080.1:p.Trp152Cys | |
| ENST00000539156.5:c.246G>T | ENSP00000454271.1:p.Trp82Cys | |
| ENST00000558022.5:c.456G>T | ENSP00000453152.1:p.Trp152Cys | |
| ENST00000558514.1:n.2G>T | ||
| ENST00000558627.1:n.384G>T | ||
| ENST00000561421.5:c.456G>T | ENSP00000453347.1:p.Trp152Cys | |
| NM_000137.2:c.456G>T | NP_000128.1:p.Trp152Cys | |
| XM_024449872.1:c.456G>T | XP_024305640.1:p.Trp152Cys | |
| NM_000137.4:c.456G>T MANE Select | NP_000128.1:p.Trp152Cys | |
| NM_001374377.1:c.456G>T | NP_001361306.1:p.Trp152Cys | |
| NM_001374380.1:c.456G>T | NP_001361309.1:p.Trp152Cys |