Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35648379C>G , CM000681.2:g.35648379C>G | GRCh38 |
| NC_000019.9:g.36139281C>G , CM000681.1:g.36139281C>G | GRCh37 |
| NC_000019.8:g.40831121C>G | NCBI36 |
| NG_012193.1:g.5127C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001863.5:c.-36C>G MANE Select | NP_001854.1:n.-36C>G |
| ENST00000649813.2:c.-36C>G MANE Select | ENSP00000497926.1:n.-36C>G |
| NM_001863.4:c.-36C>G | NP_001854.1:n.-36C>G |
| ENST00000246554.7:c.-36C>G | ENSP00000246554.2:n.-36C>G |