Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77579022A>G , CM000676.2:g.77579022A>G | GRCh38 |
| NC_000014.8:g.78045365A>G , CM000676.1:g.78045365A>G | GRCh37 |
| NC_000014.7:g.77115118A>G | NCBI36 |
| NG_028282.1:g.42746T>C , LRG_371:g.42746T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692906.1:n.147T>C | ||
| ENST00000216484.7:c.415T>C MANE Select | ENSP00000216484.2:p.Cys139Arg | |
| ENST00000216484.6:c.415T>C | ENSP00000216484.2:p.Cys139Arg | |
| ENST00000554901.1:c.224T>C | ||
| ENST00000557566.1:n.254T>C | ||
| NM_004863.3:c.415T>C , LRG_371t1:c.415T>C | NP_004854.1:p.Cys139Arg | |
| XM_011537384.1:c.415T>C | XP_011535686.1:p.Cys139Arg | |
| XM_011537384.2:c.415T>C | XP_011535686.1:p.Cys139Arg | |
| NM_004863.4:c.415T>C MANE Select | NP_004854.1:p.Cys139Arg |