Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10647095T>G , CM000682.2:g.10647095T>G | GRCh38 |
| NC_000020.10:g.10627743T>G , CM000682.1:g.10627743T>G | GRCh37 |
| NC_000020.9:g.10575743T>G | NCBI36 |
| NG_007496.1:g.31952A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.1729A>C MANE Select | NP_000205.1:p.Ser577Arg |
| ENST00000254958.10:c.1729A>C MANE Select | ENSP00000254958.4:p.Ser577Arg |
| NM_000214.2:c.1729A>C | NP_000205.1:p.Ser577Arg |
| ENST00000254958.9:c.1729A>C | ENSP00000254958.4:p.Ser577Arg |
| ENST00000423891.6:n.1595A>C | |
| ENST00000612857.1:n.218A>C | |
| ENST00000613518.1:c.78A>C | |
| ENST00000617965.2:n.2318A>C | |
| ENST00000622545.1:c.460A>C |