Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116672T= , CM000669.2:g.19116672T= | GRCh38 |
| NC_000007.13:g.19156295T= , CM000669.1:g.19156295T= | GRCh37 |
| NC_000007.12:g.19122820T= | NCBI36 |
| NG_008114.1:g.6001A= | |
| NG_008114.2:g.6001A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.*41A= MANE Select | ENSP00000242261.5:n.*41A= | |
| ENST00000242261.5:c.*41A= | ENSP00000242261.5:n.*41A= | |
| ENST00000354571.5:c.447A= | ||
| ENST00000443687.5:c.253A= | ||
| NM_000474.3:c.*41A= | NP_000465.1:n.*41A= | |
| XM_011515496.1:c.*41A= | XP_011513798.1:n.*41A= | |
| NR_149001.1:n.1001A= | ||
| NM_000474.4:c.*41A= MANE Select | NP_000465.1:n.*41A= | |
| NR_149001.2:n.965A= |