Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145227A>C , CM000664.2:g.74145227A>C | GRCh38 |
| NC_000002.11:g.74372354A>C , CM000664.1:g.74372354A>C | GRCh37 |
| NC_000002.10:g.74225862A>C | NCBI36 |
| NG_031910.1:g.7686T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_212552.3:c.131T>G MANE Select | NP_997717.2:p.Phe44Cys |
| ENST00000327428.10:c.131T>G MANE Select | ENSP00000331369.5:p.Phe44Cys |
| NM_001035505.1:c.131T>G | NP_001030582.1:p.Phe44Cys |
| NM_001035505.2:c.131T>G | NP_001030582.1:p.Phe44Cys |
| NM_212552.2:c.131T>G | NP_997717.2:p.Phe44Cys |
| ENST00000295326.4:c.131T>G | ENSP00000295326.4:p.Phe44Cys |
| ENST00000327428.9:c.131T>G | ENSP00000331369.5:p.Phe44Cys |
| ENST00000469676.1:n.1154T>G | |
| ENST00000477685.5:n.282T>G | |
| ENST00000484655.1:n.2686T>G |