gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483072G>A , CM000685.2:g.149483072G>A | GRCh38 |
| NC_000023.10:g.148564603G>A , CM000685.1:g.148564603G>A | GRCh37 |
| NC_000023.9:g.148372508G>A | NCBI36 |
| NG_011900.3:g.27263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1327C>T MANE Select | ENSP00000339801.6:p.Arg443Ter | |
| ENST00000651111.1:c.694C>T | ENSP00000498395.1:p.Arg232Ter | |
| ENST00000340855.10:c.1327C>T | ENSP00000339801.6:p.Arg443Ter | |
| ENST00000422081.6:c.694C>T | ENSP00000477056.1:p.Arg232Ter | |
| NM_000202.6:c.1327C>T | NP_000193.1:p.Arg443Ter | |
| NM_001166550.2:c.1057C>T | NP_001160022.1:p.Arg353Ter | |
| NM_000202.7:c.1327C>T | NP_000193.1:p.Arg443Ter | |
| NM_001166550.3:c.1057C>T | NP_001160022.1:p.Arg353Ter | |
| NM_000202.8:c.1327C>T MANE Select | NP_000193.1:p.Arg443Ter | |
| NM_001166550.4:c.1057C>T | NP_001160022.1:p.Arg353Ter |