dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49869365G>C , CM000674.2:g.49869365G>C | GRCh38 |
| NC_000012.11:g.50263148G>C , CM000674.1:g.50263148G>C | GRCh37 |
| NC_000012.10:g.48549415G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320634.8:c.*1139C>G MANE Select | ENSP00000321951.3:n.*1139C>G | |
| ENST00000320634.7:c.*1139C>G | ENSP00000321951.3:n.*1139C>G | |
| NM_012306.3:c.*1139C>G | NP_036438.2:n.*1139C>G | |
| XM_005268730.2:c.*1139C>G | XP_005268787.1:n.*1139C>G | |
| XM_005268730.3:c.*1139C>G | XP_005268787.1:n.*1139C>G | |
| NM_012306.4:c.*1139C>G MANE Select | NP_036438.2:n.*1139C>G |