Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48515393A>C , CM000677.2:g.48515393A>C | GRCh38 |
| NC_000015.9:g.48807590A>C , CM000677.1:g.48807590A>C | GRCh37 |
| NC_000015.8:g.46594882A>C | NCBI36 |
| NG_008805.2:g.135396T>G , LRG_778:g.135396T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.1462T>G MANE Select | NP_000129.3:p.Cys488Gly |
| ENST00000316623.10:c.1462T>G MANE Select | ENSP00000325527.5:p.Cys488Gly |
| NM_000138.4:c.1462T>G , LRG_778t1:c.1462T>G | NP_000129.3:p.Cys488Gly |
| ENST00000316623.9:c.1462T>G | ENSP00000325527.5:p.Cys488Gly |
| ENST00000537463.6:c.636+22318T>G | ENSP00000440294.2:n.636+22318T>G |
| ENST00000559133.6:c.1462T>G | ENSP00000453958.2:p.Cys488Gly |
| ENST00000674301.2:c.1462T>G | ENSP00000501333.2:p.Cys488Gly |
| ENST00000684448.1:n.136T>G |