Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5969360G>T , CM000674.2:g.5969360G>T | GRCh38 |
| NC_000012.11:g.6078526G>T , CM000674.1:g.6078526G>T | GRCh37 |
| NC_000012.10:g.5948787G>T | NCBI36 |
| NG_009072.1:g.160311C>A | |
| NG_009072.2:g.160311C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.7580C>A MANE Select | NP_000543.3:p.Pro2527His |
| ENST00000261405.10:c.7580C>A MANE Select | ENSP00000261405.5:p.Pro2527His |
| NM_000552.3:c.7580C>A | NP_000543.2:p.Pro2527His |
| NM_000552.4:c.7580C>A | NP_000543.2:p.Pro2527His |
| ENST00000261405.9:c.7580C>A | ENSP00000261405.5:p.Pro2527His |