gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148229681C>T , CM000669.2:g.148229681C>T | GRCh38 |
| NC_000007.13:g.147926773C>T , CM000669.1:g.147926773C>T | GRCh37 |
| NC_000007.12:g.147557706C>T | NCBI36 |
| NG_007092.2:g.2118321C>T | |
| NG_007092.3:g.2118681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.3283C>T MANE Select | ENSP00000354778.3:p.Arg1095Ter | |
| ENST00000636870.1:n.3145C>T | ||
| ENST00000637020.1:n.1101C>T | ||
| ENST00000361727.7:c.3283C>T | ENSP00000354778.3:p.Arg1095Ter | |
| ENST00000627772.2:n.1456C>T | ||
| ENST00000628930.2:c.460C>T | ENSP00000487516.1:p.Arg154Ter | |
| NM_014141.5:c.3283C>T | NP_054860.1:p.Arg1095Ter | |
| XM_006715919.1:c.1771C>T | XP_006715982.1:p.Arg591Ter | |
| NM_014141.6:c.3283C>T MANE Select | NP_054860.1:p.Arg1095Ter |