Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6589230C>G , CM000671.2:g.6589230C>G | GRCh38 |
| NC_000009.11:g.6589230C>G , CM000671.1:g.6589230C>G | GRCh37 |
| NC_000009.10:g.6579230C>G | NCBI36 |
| NG_016397.1:g.61463G>C , LRG_643:g.61463G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1545G>C MANE Select | NP_000161.2:p.Arg515Ser |
| ENST00000321612.8:c.1545G>C MANE Select | ENSP00000370737.4:p.Arg515Ser |
| NM_000170.2:c.1545G>C , LRG_643t1:c.1545G>C | NP_000161.2:p.Arg515Ser |
| ENST00000321612.6:c.1545G>C | ENSP00000370737.3:p.Arg515Ser |
| ENST00000463305.1:n.629G>C | |
| ENST00000639364.1:n.1245G>C | |
| ENST00000639443.1:n.1113G>C | |
| ENST00000639954.1:n.1253G>C | |
| ENST00000640592.1:n.1428G>C |