Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274964C>A , CM000672.2:g.80274964C>A | GRCh38 |
| NC_000010.10:g.82034720C>A , CM000672.1:g.82034720C>A | GRCh37 |
| NC_000010.9:g.82024700C>A | NCBI36 |
| NG_008083.1:g.19715G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.951+53G>T MANE Select | ENSP00000361287.3:n.951+53G>T | |
| ENST00000372213.7:c.951+53G>T | ENSP00000361287.3:n.951+53G>T | |
| ENST00000480845.1:n.183+53G>T | ||
| ENST00000485270.5:n.463+53G>T | ||
| NM_000429.2:c.951+53G>T | NP_000420.1:n.951+53G>T | |
| XM_005269842.3:c.951+53G>T | XP_005269899.1:n.951+53G>T | |
| XM_005269843.3:c.828+53G>T | XP_005269900.1:n.828+53G>T | |
| NM_000429.3:c.951+53G>T MANE Select | NP_000420.1:n.951+53G>T |