Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35846010T>C , CM000681.2:g.35846010T>C | GRCh38 |
| NC_000019.9:g.36336912T>C , CM000681.1:g.36336912T>C | GRCh37 |
| NC_000019.8:g.41028752T>C | NCBI36 |
| NG_013356.2:g.28278A>G , LRG_693:g.28278A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1625A>G MANE Select | ENSP00000368190.4:p.Gln542Arg | |
| ENST00000353632.6:c.1625A>G | ENSP00000343634.5:p.Gln542Arg | |
| ENST00000378910.9:c.1625A>G | ENSP00000368190.4:p.Gln542Arg | |
| NM_004646.3:c.1625A>G , LRG_693t1:c.1625A>G | NP_004637.1:p.Gln542Arg | |
| NM_004646.4:c.1625A>G MANE Select | NP_004637.1:p.Gln542Arg |