Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.74750691A>G , CM000666.2:g.74750691A>G | GRCh38 |
| NC_000004.11:g.75675901A>G , CM000666.1:g.75675901A>G | GRCh37 |
| NC_000004.10:g.75894925A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395743.8:c.310T>C MANE Select | ENSP00000379092.3:p.Cys104Arg | |
| ENST00000395743.7:c.310T>C | ENSP00000379092.3:p.Cys104Arg | |
| ENST00000512743.1:c.218-2542T>C | ||
| NM_001316963.1:c.282-2542T>C | NP_001303892.1:n.282-2542T>C | |
| NM_001729.2:c.310T>C | NP_001720.1:p.Cys104Arg | |
| NM_001729.3:c.310T>C | NP_001720.1:p.Cys104Arg | |
| XM_011532211.1:c.310T>C | XP_011530513.1:p.Cys104Arg | |
| NM_001729.4:c.310T>C MANE Select | NP_001720.1:p.Cys104Arg | |
| NM_001316963.2:c.282-2542T>C | NP_001303892.1:n.282-2542T>C |