Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15244608C>G , CM000681.2:g.15244608C>G | GRCh38 |
| NC_000019.9:g.15355419C>G , CM000681.1:g.15355419C>G | GRCh37 |
| NC_000019.8:g.15216419C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379291.1:c.2212-8G>C MANE Select | NP_001366220.1:n.2212-8G>C |
| ENST00000679869.1:c.2212-8G>C MANE Select | ENSP00000506350.1:n.2212-8G>C |
| NM_058243.2:c.2212-8G>C | NP_490597.1:n.2212-8G>C |
| NM_058243.3:c.2212-8G>C | NP_490597.1:n.2212-8G>C |
| ENST00000263377.6:c.2212-8G>C | ENSP00000263377.1:n.2212-8G>C |
| ENST00000594066.1:n.502G>C | |
| XM_011527854.1:c.2212-8G>C | XP_011526156.1:n.2212-8G>C |
| XM_011527854.2:c.2212-8G>C | XP_011526156.1:n.2212-8G>C |