Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91950002G>C , CM000671.2:g.91950002G>C | GRCh38 |
| NC_000009.11:g.94712284G>C , CM000671.1:g.94712284G>C | GRCh37 |
| NC_000009.10:g.93752105G>C | NCBI36 |
| NG_008089.1:g.5161C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.-39C>G MANE Select | ENSP00000364860.3:n.-39C>G | |
| ENST00000375708.3:c.-39C>G | ENSP00000364860.3:n.-39C>G | |
| NM_004560.3:c.-39C>G | NP_004551.2:n.-39C>G | |
| NM_001318204.1:c.-39C>G | NP_001305133.1:n.-39C>G | |
| XR_001746315.1:n.205C>G | ||
| NM_004560.4:c.-39C>G MANE Select | NP_004551.2:n.-39C>G | |
| NM_001318204.2:c.-39C>G | NP_001305133.1:n.-39C>G |