Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.44245292A>G , CM000685.2:g.44245292A>G | GRCh38 |
| NC_000023.10:g.44104538A>G , CM000685.1:g.44104538A>G | GRCh37 |
| NC_000023.9:g.43989482A>G | NCBI36 |
| NG_021391.1:g.103387T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025184.4:c.1111+2980T>C MANE Select | NP_079460.2:n.1111+2980T>C |
| ENST00000420999.2:c.1111+2980T>C MANE Select | ENSP00000404232.2:n.1111+2980T>C |
| NM_025184.3:c.1111+2980T>C | NP_079460.2:n.1111+2980T>C |
| ENST00000420999.1:c.1111+2980T>C | ENSP00000404232.2:n.1111+2980T>C |
| XM_005272671.2:c.1111+2980T>C | XP_005272728.1:n.1111+2980T>C |
| XM_006724562.2:c.523+2980T>C | XP_006724625.1:n.523+2980T>C |
| XM_024452453.1:c.1015+2980T>C | XP_024308221.1:n.1015+2980T>C |
| XR_949019.1:n.1188+2980T>C |