Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44297726G>C , CM000683.2:g.44297726G>C | GRCh38 |
| NC_000021.8:g.45717609G>C , CM000683.1:g.45717609G>C | GRCh37 |
| NC_000021.7:g.44542037G>C | NCBI36 |
| NG_009556.1:g.16847G>C , LRG_18:g.16847G>C | |
| NG_034033.1:g.2693G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1637G>C MANE Select | NP_000374.1:p.Ter546Ser |
| ENST00000291582.6:c.1637G>C MANE Select | ENSP00000291582.5:p.Ter546Ser |
| NM_000383.3:c.1637G>C | NP_000374.1:p.Ter546Ser |
| ENST00000291582.5:c.1637G>C | ENSP00000291582.5:p.Ter546Ser |
| ENST00000337909.5:n.1098G>C | |
| ENST00000397994.8:n.1016G>C | |
| ENST00000527919.5:n.2396G>C | |
| ENST00000530812.5:n.3384G>C | |
| XM_011529551.1:c.1634G>C | XP_011527853.1:p.Ter545Ser |