Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116617C>T , CM000669.2:g.19116617C>T | GRCh38 |
| NC_000007.13:g.19156240C>T , CM000669.1:g.19156240C>T | GRCh37 |
| NC_000007.12:g.19122765C>T | NCBI36 |
| NG_008114.1:g.6056G>A | |
| NG_008114.2:g.6056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.*42+54G>A MANE Select | ENSP00000242261.5:n.*42+54G>A | |
| ENST00000242261.5:c.*42+54G>A | ENSP00000242261.5:n.*42+54G>A | |
| ENST00000354571.5:c.448+54G>A | ||
| ENST00000443687.5:c.254+54G>A | ||
| NM_000474.3:c.*42+54G>A | NP_000465.1:n.*42+54G>A | |
| XM_011515496.1:c.*42+54G>A | XP_011513798.1:n.*42+54G>A | |
| NR_149001.1:n.1002+54G>A | ||
| NM_000474.4:c.*42+54G>A MANE Select | NP_000465.1:n.*42+54G>A | |
| NR_149001.2:n.966+54G>A |