Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77562485C>G , CM000676.2:g.77562485C>G | GRCh38 |
| NC_000014.8:g.78028828C>G , CM000676.1:g.78028828C>G | GRCh37 |
| NC_000014.7:g.77098581C>G | NCBI36 |
| NG_028282.1:g.59283G>C , LRG_371:g.59283G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687688.1:n.524G>C | ||
| ENST00000691887.1:n.628-5339G>C | ||
| ENST00000692906.1:n.493G>C | ||
| ENST00000216484.7:c.761G>C MANE Select | ENSP00000216484.2:p.Cys254Ser | |
| ENST00000216484.6:c.761G>C | ENSP00000216484.2:p.Cys254Ser | |
| ENST00000554901.1:c.570G>C | ||
| NM_004863.3:c.761G>C , LRG_371t1:c.761G>C | NP_004854.1:p.Cys254Ser | |
| XM_011537384.1:c.761G>C | XP_011535686.1:p.Cys254Ser | |
| XM_011537384.2:c.761G>C | XP_011535686.1:p.Cys254Ser | |
| NM_004863.4:c.761G>C MANE Select | NP_004854.1:p.Cys254Ser |