Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622770C= , CM000668.2:g.31622770C= | GRCh38 |
| NC_000006.11:g.31590547C= , CM000668.1:g.31590547C= | GRCh37 |
| NC_000006.10:g.31698526C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.-20C= MANE Select | ENSP00000365201.2:n.-20C= | |
| ENST00000376007.8:c.-20C= | ENSP00000365175.4:n.-20C= | |
| ENST00000376033.2:c.-20C= | ENSP00000365201.2:n.-20C= | |
| ENST00000469577.5:n.136-1491C= | ||
| NM_004638.3:c.-20C= | NP_004629.3:n.-20C= | |
| NM_080686.2:c.-20C= | NP_542417.2:n.-20C= | |
| XM_011514890.1:c.-20C= | XP_011513192.1:n.-20C= | |
| NM_004638.4:c.-20C= MANE Select | NP_004629.3:n.-20C= | |
| NM_080686.3:c.-20C= | NP_542417.2:n.-20C= |