Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747271T>C , CM000663.2:g.196747271T>C | GRCh38 |
| NC_000001.10:g.196716401T>C , CM000663.1:g.196716401T>C | GRCh37 |
| NC_000001.9:g.194983024T>C | NCBI36 |
| NG_007259.1:g.100261T>C , LRG_47:g.100261T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367429.9:c.3654T>C MANE Select | ENSP00000356399.4:p.Cys1218= | |
| ENST00000367429.8:c.3654T>C | ENSP00000356399.4:p.Cys1218= | |
| NM_000186.3:c.3654T>C , LRG_47t1:c.3654T>C | NP_000177.2:p.Cys1218= | |
| NM_000186.4:c.3654T>C MANE Select | NP_000177.2:p.Cys1218= |