Linked Data
dbSNP Id:
rs754678543
ExAC:
20:44576011 G / A
gnomAD v2:
20-44576011-G-A
gnomAD v4:
20-45947372-G-A
COSMIC:
COSM6004408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947372G>A , CM000682.2:g.45947372G>A | GRCh38 |
| NC_000020.10:g.44576011G>A , CM000682.1:g.44576011G>A | GRCh37 |
| NC_000020.9:g.44009418G>A | NCBI36 |
| NG_029772.1:g.29823C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.1817G>A MANE Select | ENSP00000361486.3:p.Arg606His | |
| ENST00000372409.7:c.1817G>A | ENSP00000361486.3:p.Arg606His | |
| ENST00000479348.2:c.673G>A | ||
| NM_022104.3:c.1817G>A | NP_071387.1:p.Arg606His | |
| XM_011528980.1:c.1817G>A | XP_011527282.1:p.Arg606His | |
| XM_011528981.1:c.1817G>A | XP_011527283.1:p.Arg606His | |
| XM_011528982.1:c.773G>A | XP_011527284.1:p.Arg258His | |
| XM_011528980.3:c.1817G>A | XP_011527282.1:p.Arg606His | |
| XM_011528981.3:c.1817G>A | XP_011527283.1:p.Arg606His | |
| XM_017028013.2:c.1817G>A | XP_016883502.1:p.Arg606His | |
| XM_017028014.2:c.773G>A | XP_016883503.1:p.Arg258His | |
| NM_022104.4:c.1817G>A MANE Select | NP_071387.1:p.Arg606His |