Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202612G>T , CM000668.2:g.32202612G>T | GRCh38 |
| NC_000006.11:g.32170389G>T , CM000668.1:g.32170389G>T | GRCh37 |
| NC_000006.10:g.32278367G>T | NCBI36 |
| NG_028190.1:g.26456C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3232-13C>A MANE Select | ENSP00000364163.3:n.3232-13C>A | |
| ENST00000474612.1:n.1305C>A | ||
| NM_004557.3:c.3232-13C>A | NP_004548.3:n.3232-13C>A | |
| NR_134949.1:n.3473-1112C>A | ||
| NR_134950.1:n.3371-1112C>A | ||
| NM_004557.4:c.3232-13C>A MANE Select | NP_004548.3:n.3232-13C>A | |
| NR_134949.2:n.3473-1112C>A | ||
| NR_134950.2:n.3371-1112C>A |