Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77518095A>G , CM000676.2:g.77518095A>G | GRCh38 |
| NC_000014.8:g.77984438A>G , CM000676.1:g.77984438A>G | GRCh37 |
| NC_000014.7:g.77054191A>G | NCBI36 |
| NG_028282.1:g.103673T>C , LRG_371:g.103673T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686627.1:n.544T>C | ||
| ENST00000687688.1:n.1275T>C | ||
| ENST00000692906.1:n.1244T>C | ||
| ENST00000216484.7:c.1512T>C MANE Select | ENSP00000216484.2:p.Ile504= | |
| ENST00000216484.6:c.1512T>C | ENSP00000216484.2:p.Ile504= | |
| ENST00000556607.1:c.340T>C | ENSP00000451029.1:n.340T>C | |
| NM_004863.3:c.1512T>C , LRG_371t1:c.1512T>C | NP_004854.1:p.Ile504= | |
| NM_004863.4:c.1512T>C MANE Select | NP_004854.1:p.Ile504= |