Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293813G>C , CM000683.2:g.44293813G>C | GRCh38 |
| NC_000021.8:g.45713696G>C , CM000683.1:g.45713696G>C | GRCh37 |
| NC_000021.7:g.44538124G>C | NCBI36 |
| NG_009556.1:g.12934G>C , LRG_18:g.12934G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1303G>C MANE Select | NP_000374.1:p.Gly435Arg |
| ENST00000291582.6:c.1303G>C MANE Select | ENSP00000291582.5:p.Gly435Arg |
| NM_000383.3:c.1303G>C | NP_000374.1:p.Gly435Arg |
| ENST00000291582.5:c.1303G>C | ENSP00000291582.5:p.Gly435Arg |
| ENST00000337909.5:n.764G>C | |
| ENST00000397994.8:n.682G>C | |
| ENST00000527919.5:n.2033G>C | |
| ENST00000530812.5:n.3050G>C | |
| XM_011529551.1:c.1300G>C | XP_011527853.1:p.Gly434Arg |