Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576044A>T , CM000670.2:g.86576044A>T | GRCh38 |
| NC_000008.10:g.87588272A>T , CM000670.1:g.87588272A>T | GRCh37 |
| NC_000008.9:g.87657388A>T | NCBI36 |
| NG_016980.1:g.172632T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2190T>A MANE Select | ENSP00000316605.5:p.Asn730Lys | |
| ENST00000681546.1:n.2010T>A | ||
| ENST00000681746.1:c.*601T>A | ENSP00000505959.1:n.*601T>A | |
| ENST00000320005.5:c.2190T>A | ENSP00000316605.5:p.Asn730Lys | |
| ENST00000517327.5:c.276+2645T>A | ENSP00000428329.1:n.276+2645T>A | |
| NM_019098.4:c.2190T>A | NP_061971.3:p.Asn730Lys | |
| XM_011517138.1:c.1776T>A | XP_011515440.1:p.Asn592Lys | |
| XM_011517138.2:c.1776T>A | XP_011515440.1:p.Asn592Lys | |
| NM_019098.5:c.2190T>A MANE Select | NP_061971.3:p.Asn730Lys |