Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145221C>T , CM000664.2:g.74145221C>T | GRCh38 |
| NC_000002.11:g.74372348C>T , CM000664.1:g.74372348C>T | GRCh37 |
| NC_000002.10:g.74225856C>T | NCBI36 |
| NG_031910.1:g.7692G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_212552.3:c.137G>A MANE Select | NP_997717.2:p.Arg46Gln |
| ENST00000327428.10:c.137G>A MANE Select | ENSP00000331369.5:p.Arg46Gln |
| NM_001035505.1:c.137G>A | NP_001030582.1:p.Arg46Gln |
| NM_001035505.2:c.137G>A | NP_001030582.1:p.Arg46Gln |
| NM_212552.2:c.137G>A | NP_997717.2:p.Arg46Gln |
| ENST00000295326.4:c.137G>A | ENSP00000295326.4:p.Arg46Gln |
| ENST00000327428.9:c.137G>A | ENSP00000331369.5:p.Arg46Gln |
| ENST00000469676.1:n.1160G>A | |
| ENST00000477685.5:n.288G>A | |
| ENST00000484655.1:n.2692G>A |