Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571223A>C , CM000663.2:g.154571223A>C | GRCh38 |
| NC_000001.10:g.154543699A>C , CM000663.1:g.154543699A>C | GRCh37 |
| NC_000001.9:g.152810323A>C | NCBI36 |
| NG_008027.1:g.8443A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.400A>C MANE Select | ENSP00000357461.3:p.Asn134His | |
| ENST00000636034.1:c.400A>C | ENSP00000489703.1:p.Asn134His | |
| ENST00000637900.1:c.406A>C | ENSP00000490474.1:p.Asn136His | |
| ENST00000368476.3:c.400A>C | ENSP00000357461.3:p.Asn134His | |
| NM_000748.2:c.400A>C | NP_000739.1:p.Asn134His | |
| XM_017000180.2:c.-9-102A>C | XP_016855669.1:n.-9-102A>C | |
| XR_001736952.2:n.652A>C | ||
| NM_000748.3:c.400A>C MANE Select | NP_000739.1:p.Asn134His |