gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351302C>T , CM000677.2:g.38351302C>T | GRCh38 |
| NC_000015.9:g.38643503C>T , CM000677.1:g.38643503C>T | GRCh37 |
| NC_000015.8:g.36430795C>T | NCBI36 |
| NG_008980.1:g.103452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.973C>T MANE Select | ENSP00000299084.4:p.Arg325Ter | |
| ENST00000299084.8:c.973C>T | ENSP00000299084.4:p.Arg325Ter | |
| NM_152594.2:c.973C>T | NP_689807.1:p.Arg325Ter | |
| XM_005254202.2:c.1009C>T | XP_005254259.1:p.Arg337Ter | |
| XM_005254203.3:c.751C>T | XP_005254260.1:p.Arg251Ter | |
| XM_011521288.1:c.910C>T | XP_011519590.1:p.Arg304Ter | |
| XM_011521289.1:c.910C>T | XP_011519591.1:p.Arg304Ter | |
| XM_011521290.1:c.910C>T | XP_011519592.1:p.Arg304Ter | |
| XM_005254202.3:c.1009C>T | XP_005254259.1:p.Arg337Ter | |
| XM_011521289.3:c.910C>T | XP_011519591.1:p.Arg304Ter | |
| NM_152594.3:c.973C>T MANE Select | NP_689807.1:p.Arg325Ter |