Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116524G= , CM000669.2:g.19116524G= | GRCh38 |
| NC_000007.13:g.19156147G= , CM000669.1:g.19156147G= | GRCh37 |
| NC_000007.12:g.19122672G= | NCBI36 |
| NG_008114.1:g.6149C= | |
| NG_008114.2:g.6149C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.*42+147C= MANE Select | ENSP00000242261.5:n.*42+147C= | |
| ENST00000242261.5:c.*42+147C= | ENSP00000242261.5:n.*42+147C= | |
| ENST00000354571.5:c.448+147C= | ||
| ENST00000443687.5:c.254+147C= | ||
| NM_000474.3:c.*42+147C= | NP_000465.1:n.*42+147C= | |
| XM_011515496.1:c.*42+147C= | XP_011513798.1:n.*42+147C= | |
| NR_149001.1:n.1002+147C= | ||
| NM_000474.4:c.*42+147C= MANE Select | NP_000465.1:n.*42+147C= | |
| NR_149001.2:n.966+147C= |