Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2430922A>G , CM000681.2:g.2430922A>G | GRCh38 |
| NC_000019.9:g.2430920A>G , CM000681.1:g.2430920A>G | GRCh37 |
| NC_000019.8:g.2381920A>G | NCBI36 |
| NG_008355.1:g.31039T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1852T>C MANE Select | NP_116126.3:p.Tyr618His |
| ENST00000325327.4:c.1852T>C MANE Select | ENSP00000327054.3:p.Tyr618His |
| NM_032737.3:c.1852T>C | NP_116126.3:p.Tyr618His |
| ENST00000325327.3:c.1852T>C | ENSP00000327054.3:p.Tyr618His |
| ENST00000475819.1:n.48-614T>C | |
| ENST00000532465.1:n.413+626T>C | |
| XM_011528378.1:c.1821+626T>C | XP_011526680.1:n.1821+626T>C |
| XM_011528379.1:c.1504T>C | XP_011526681.1:p.Tyr502His |