gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23400916G>A , CM000676.2:g.23400916G>A | GRCh38 |
| NC_000014.8:g.23870125G>A , CM000676.1:g.23870125G>A | GRCh37 |
| NC_000014.7:g.22939965G>A | NCBI36 |
| NG_023444.1:g.12362C>T , LRG_389:g.12362C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.1203C>T MANE Select | ENSP00000386041.3:p.Cys401= | |
| ENST00000557461.2:n.1270C>T | ||
| ENST00000356287.3:c.1203C>T | ENSP00000348634.3:p.Cys401= | |
| ENST00000405093.7:c.1203C>T | ENSP00000386041.3:p.Cys401= | |
| ENST00000557461.1:n.1257C>T | ||
| NM_002471.3:c.1203C>T , LRG_389t1:c.1203C>T | NP_002462.2:p.Cys401= | |
| NM_002471.4:c.1203C>T MANE Select | NP_002462.2:p.Cys401= |