Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228175195C>T , CM000663.2:g.228175195C>T | GRCh38 |
| NC_000001.10:g.228362896C>T , CM000663.1:g.228362896C>T | GRCh37 |
| NC_000001.9:g.226429519C>T | NCBI36 |
| NG_042231.1:g.14388C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001010867.4:c.753C>T MANE Select | NP_001010867.1:p.Asn251= |
| ENST00000366711.4:c.753C>T MANE Select | ENSP00000355672.3:p.Asn251= |
| NM_001010867.2:c.753C>T | NP_001010867.1:p.Asn251= |
| NM_001010867.3:c.753C>T | NP_001010867.1:p.Asn251= |
| NM_001310327.1:c.174C>T | NP_001297256.1:p.Asn58= |
| NM_001310327.2:c.174C>T | NP_001297256.1:p.Asn58= |
| ENST00000366711.3:c.753C>T | ENSP00000355672.3:p.Asn251= |
| ENST00000484749.5:n.2753C>T | |
| ENST00000546123.2:n.473C>T | |
| XM_006711753.2:c.679+166C>T | XP_006711816.1:n.679+166C>T |