Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562442A>C , CM000682.2:g.57562442A>C | GRCh38 |
| NC_000020.10:g.56137498A>C , CM000682.1:g.56137498A>C | GRCh37 |
| NC_000020.9:g.55570904A>C | NCBI36 |
| NG_008205.1:g.6362A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002591.4:c.406+190A>C MANE Select | NP_002582.3:n.406+190A>C |
| ENST00000319441.6:c.406+190A>C MANE Select | ENSP00000319814.4:n.406+190A>C |
| NM_002591.3:c.406+190A>C | NP_002582.3:n.406+190A>C |
| ENST00000319441.5:c.406+190A>C | ENSP00000319814.4:n.406+190A>C |
| ENST00000467047.1:n.1363A>C | |
| ENST00000498194.1:n.95A>C | |
| XM_011528839.1:c.11-254A>C | XP_011527141.1:n.11-254A>C |
| XM_024451888.1:c.11-254A>C | XP_024307656.1:n.11-254A>C |