gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65198563T>A , CM000677.2:g.65198563T>A | GRCh38 |
| NC_000015.9:g.65490901T>A , CM000677.1:g.65490901T>A | GRCh37 |
| NC_000015.8:g.63277954T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261883.6:c.1723A>T MANE Select | ENSP00000261883.4:p.Lys575Ter | |
| ENST00000261883.5:c.1723A>T | ENSP00000261883.4:p.Lys575Ter | |
| XM_017022678.2:c.1804A>T | XP_016878167.1:p.Lys602Ter | |
| XM_017022679.1:c.1651A>T | XP_016878168.1:p.Lys551Ter | |
| NM_003613.4:c.1723A>T MANE Select | NP_003604.4:p.Lys575Ter |