Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562439C= , CM000682.2:g.57562439C= | GRCh38 |
| NC_000020.10:g.56137495C= , CM000682.1:g.56137495C= | GRCh37 |
| NC_000020.9:g.55570901C= | NCBI36 |
| NG_008205.1:g.6359C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002591.4:c.406+187C= MANE Select | NP_002582.3:n.406+187C= |
| ENST00000319441.6:c.406+187C= MANE Select | ENSP00000319814.4:n.406+187C= |
| NM_002591.3:c.406+187C= | NP_002582.3:n.406+187C= |
| ENST00000319441.5:c.406+187C= | ENSP00000319814.4:n.406+187C= |
| ENST00000467047.1:n.1360C= | |
| ENST00000498194.1:n.92C= | |
| XM_011528839.1:c.11-257C= | XP_011527141.1:n.11-257C= |
| XM_024451888.1:c.11-257C= | XP_024307656.1:n.11-257C= |