Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48503847A>G , CM000677.2:g.48503847A>G | GRCh38 |
| NC_000015.9:g.48796044A>G , CM000677.1:g.48796044A>G | GRCh37 |
| NC_000015.8:g.46583336A>G | NCBI36 |
| NG_008805.2:g.146942T>C , LRG_778:g.146942T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.2053T>C MANE Select | NP_000129.3:p.Cys685Arg |
| ENST00000316623.10:c.2053T>C MANE Select | ENSP00000325527.5:p.Cys685Arg |
| NM_000138.4:c.2053T>C , LRG_778t1:c.2053T>C | NP_000129.3:p.Cys685Arg |
| ENST00000316623.9:c.2053T>C | ENSP00000325527.5:p.Cys685Arg |
| ENST00000537463.6:c.637-29197T>C | ENSP00000440294.2:n.637-29197T>C |
| ENST00000559133.6:c.2053T>C | ENSP00000453958.2:p.Cys685Arg |
| ENST00000674301.2:c.2053T>C | ENSP00000501333.2:p.Cys685Arg |
| ENST00000684448.1:n.727T>C |