Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128355396A>C , CM000671.2:g.128355396A>C | GRCh38 |
| NC_000009.11:g.131117675A>C , CM000671.1:g.131117675A>C | GRCh37 |
| NC_000009.10:g.130157496A>C | NCBI36 |
| NG_017057.1:g.19837A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005094.4:c.1463-2A>C MANE Select | NP_005085.2:n.1463-2A>C |
| ENST00000300456.5:c.1463-2A>C MANE Select | ENSP00000300456.3:n.1463-2A>C |
| NM_005094.3:c.1463-2A>C | NP_005085.2:n.1463-2A>C |
| ENST00000300456.4:c.1463-2A>C | ENSP00000300456.3:n.1463-2A>C |
| ENST00000372870.5:c.245-2A>C | ENSP00000361961.1:n.245-2A>C |
| XM_017014222.1:c.1463-2A>C | XP_016869711.1:n.1463-2A>C |
| XM_024447391.1:c.1463-2A>C | XP_024303159.1:n.1463-2A>C |