Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21561070G>A , CM000669.2:g.21561070G>A | GRCh38 |
| NC_000007.13:g.21600688G>A , CM000669.1:g.21600688G>A | GRCh37 |
| NC_000007.12:g.21567213G>A | NCBI36 |
| NG_012886.2:g.22856G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.883-1G>A MANE Select | NP_001264044.1:n.883-1G>A |
| ENST00000409508.8:c.883-1G>A MANE Select | ENSP00000475939.1:n.883-1G>A |
| NM_001277115.1:c.883-1G>A | NP_001264044.1:n.883-1G>A |
| ENST00000328843.10:c.883-1G>A | ENSP00000330671.7:n.883-1G>A |
| ENST00000409508.7:c.883-1G>A | ENSP00000475939.1:n.883-1G>A |
| ENST00000483691.1:n.79-1G>A | |
| ENST00000620169.4:c.883-1G>A | ENSP00000481693.1:n.883-1G>A |
| XR_001745114.1:n.2794-830C>T | |
| XR_927090.1:n.564-830C>T |