Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110865C>A , CM000674.2:g.6110865C>A | GRCh38 |
| NC_000012.11:g.6220031C>A , CM000674.1:g.6220031C>A | GRCh37 |
| NC_000012.10:g.6090292C>A | NCBI36 |
| NG_009072.1:g.18806G>T | |
| NG_009072.2:g.18806G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.323+1G>T MANE Select | NP_000543.3:n.323+1G>T |
| ENST00000261405.10:c.323+1G>T MANE Select | ENSP00000261405.5:n.323+1G>T |
| NM_000552.3:c.323+1G>T | NP_000543.2:n.323+1G>T |
| NM_000552.4:c.323+1G>T | NP_000543.2:n.323+1G>T |
| ENST00000261405.9:c.323+1G>T | ENSP00000261405.5:n.323+1G>T |
| ENST00000321023.5:c.*382+1G>T | ENSP00000461331.1:n.*382+1G>T |
| ENST00000538635.5:n.352+1G>T |