Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.108219397C>A , CM000665.2:g.108219397C>A | GRCh38 |
| NC_000003.11:g.107938244C>A , CM000665.1:g.107938244C>A | GRCh37 |
| NC_000003.10:g.109420934C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018010.4:c.375+13G>T MANE Select | NP_060480.1:n.375+13G>T |
| ENST00000264538.4:c.375+13G>T MANE Select | ENSP00000264538.3:n.375+13G>T |
| NM_018010.3:c.375+13G>T | NP_060480.1:n.375+13G>T |
| ENST00000264538.3:c.375+13G>T | ENSP00000264538.3:n.375+13G>T |
| ENST00000465024.1:n.413+13G>T | |
| ENST00000478157.1:c.213-744G>T | ENSP00000417768.1:n.213-744G>T |
| ENST00000485979.1:n.135+13G>T |