Linked Data
dbSNP Id:
rs1401796494
gnomAD v2:
20-44576384-A-G
gnomAD v3:
20-45947745-A-G
gnomAD v4:
20-45947745-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947745A>G , CM000682.2:g.45947745A>G | GRCh38 |
| NC_000020.10:g.44576384A>G , CM000682.1:g.44576384A>G | GRCh37 |
| NC_000020.9:g.44009791A>G | NCBI36 |
| NG_029772.1:g.29450T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.2105A>G MANE Select | ENSP00000361486.3:p.His702Arg | |
| ENST00000372409.7:c.2105A>G | ENSP00000361486.3:p.His702Arg | |
| ENST00000479348.2:c.1046A>G | ||
| NM_022104.3:c.2105A>G | NP_071387.1:p.His702Arg | |
| XM_011528980.1:c.2105A>G | XP_011527282.1:p.His702Arg | |
| XM_011528981.1:c.2105A>G | XP_011527283.1:p.His702Arg | |
| XM_011528982.1:c.1061A>G | XP_011527284.1:p.His354Arg | |
| XM_011528980.3:c.2105A>G | XP_011527282.1:p.His702Arg | |
| XM_011528981.3:c.2105A>G | XP_011527283.1:p.His702Arg | |
| XM_017028013.2:c.2105A>G | XP_016883502.1:p.His702Arg | |
| XM_017028014.2:c.1061A>G | XP_016883503.1:p.His354Arg | |
| NM_022104.4:c.2105A>G MANE Select | NP_071387.1:p.His702Arg |