Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10639625G>C , CM000682.2:g.10639625G>C | GRCh38 |
| NC_000020.10:g.10620273G>C , CM000682.1:g.10620273G>C | GRCh37 |
| NC_000020.9:g.10568273G>C | NCBI36 |
| NG_007496.1:g.39422C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.3530C>G MANE Select | ENSP00000254958.4:p.Thr1177Arg | |
| ENST00000254958.9:c.3530C>G | ENSP00000254958.4:p.Thr1177Arg | |
| ENST00000423891.6:n.3396C>G | ||
| NM_000214.2:c.3530C>G | NP_000205.1:p.Thr1177Arg | |
| NM_000214.3:c.3530C>G MANE Select | NP_000205.1:p.Thr1177Arg |