Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179543A>C , CM000678.2:g.89179543A>C | GRCh38 |
| NC_000016.9:g.89245951A>C , CM000678.1:g.89245951A>C | GRCh37 |
| NC_000016.8:g.87773452A>C | NCBI36 |
| NG_012055.1:g.12789A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.170A>C MANE Select | ENSP00000289746.2:p.Asn57Thr | |
| ENST00000289746.2:c.170A>C | ENSP00000289746.2:p.Asn57Thr | |
| ENST00000521087.5:n.235A>C | ||
| ENST00000524089.1:n.235A>C | ||
| NM_004933.2:c.170A>C | NP_004924.1:p.Asn57Thr | |
| XM_011522806.1:c.170A>C | XP_011521108.1:p.Asn57Thr | |
| NM_004933.3:c.170A>C MANE Select | NP_004924.1:p.Asn57Thr |