Linked Data
dbSNP Id:
rs753759247
ExAC:
1:173881081 G / A
gnomAD v2:
1-173881081-G-A
gnomAD v4:
1-173911943-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911943G>A , CM000663.2:g.173911943G>A | GRCh38 |
| NC_000001.10:g.173881081G>A , CM000663.1:g.173881081G>A | GRCh37 |
| NC_000001.9:g.172147704G>A | NCBI36 |
| NG_012462.1:g.10436C>T , LRG_577:g.10436C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.480C>T MANE Select | ENSP00000356671.3:p.Cys160= | |
| ENST00000367698.3:c.480C>T | ENSP00000356671.3:p.Cys160= | |
| ENST00000487183.1:n.185C>T | ||
| ENST00000617423.4:c.480C>T | ENSP00000478688.1:p.Cys160= | |
| NM_000488.3:c.480C>T , LRG_577t1:c.480C>T | NP_000479.1:p.Cys160= | |
| XM_005245198.2:c.336C>T | XP_005245255.1:p.Cys112= | |
| NM_001365052.1:c.336C>T | NP_001351981.1:p.Cys112= | |
| NM_000488.4:c.480C>T MANE Select | NP_000479.1:p.Cys160= | |
| NM_001365052.2:c.336C>T | NP_001351981.1:p.Cys112= | |
| NM_001386302.1:c.480C>T | NP_001373231.1:p.Cys160= | |
| NM_001386303.1:c.561C>T | NP_001373232.1:p.Cys187= | |
| NM_001386304.1:c.480C>T | NP_001373233.1:p.Cys160= | |
| NM_001386305.1:c.480C>T | NP_001373234.1:p.Cys160= | |
| NM_001386306.1:c.409-1052C>T | NP_001373235.1:n.409-1052C>T |