ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128301463G>A , CM000667.2:g.128301463G>A | GRCh38 |
| NC_000005.9:g.127637155G>A , CM000667.1:g.127637155G>A | GRCh37 |
| NC_000005.8:g.127665054G>A | NCBI36 |
| NG_008750.1:g.241581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2749C>T | ||
| ENST00000703785.1:n.2668C>T | ||
| ENST00000262464.9:c.5965C>T MANE Select | ENSP00000262464.4:p.Arg1989Cys | |
| ENST00000262464.8:c.5965C>T | ENSP00000262464.4:p.Arg1989Cys | |
| ENST00000508053.5:c.5965C>T | ENSP00000424571.1:p.Arg1989Cys | |
| ENST00000619499.4:c.5962C>T | ENSP00000482132.1:p.Arg1988Cys | |
| NM_001999.3:c.5965C>T | NP_001990.2:p.Arg1989Cys | |
| XM_017009228.2:c.5812C>T | XP_016864717.1:p.Arg1938Cys | |
| NM_001999.4:c.5965C>T MANE Select | NP_001990.2:p.Arg1989Cys |