Linked Data
ClinVar Variation Id:
1379188
ClinVar RCV Id:
RCV001883642
dbSNP Id:
rs771754817
gnomAD v2:
1-103444636-G-A
gnomAD v3:
1-102979080-G-A
gnomAD v4:
1-102979080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102979080G>A , CM000663.2:g.102979080G>A | GRCh38 |
| NC_000001.10:g.103444636G>A , CM000663.1:g.103444636G>A | GRCh37 |
| NC_000001.9:g.103217224G>A | NCBI36 |
| NG_008033.1:g.134417C>T | |
| NG_008033.2:g.134417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2635C>T MANE Select | ENSP00000359114.3:p.Arg879Trp | |
| ENST00000353414.8:c.2518C>T | ENSP00000302551.6:p.Arg840Trp | |
| ENST00000358392.6:c.2671C>T | ENSP00000351163.2:p.Arg891Trp | |
| ENST00000370096.7:c.2635C>T | ENSP00000359114.3:p.Arg879Trp | |
| ENST00000512756.5:c.2287C>T | ENSP00000426533.1:p.Arg763Trp | |
| ENST00000635193.1:c.1969C>T | ||
| NM_001190709.1:c.2518C>T | NP_001177638.1:p.Arg840Trp | |
| NM_001854.3:c.2635C>T | NP_001845.3:p.Arg879Trp | |
| NM_080629.2:c.2671C>T | NP_542196.2:p.Arg891Trp | |
| NM_080630.3:c.2287C>T | NP_542197.3:p.Arg763Trp | |
| XM_011540719.1:c.2635C>T | XP_011539021.1:p.Arg879Trp | |
| XM_011540720.1:c.868C>T | XP_011539022.1:p.Arg290Trp | |
| XM_011540721.1:c.223C>T | XP_011539023.1:p.Arg75Trp | |
| XR_946545.1:n.3049C>T | ||
| NR_134980.1:n.2969C>T | ||
| XM_017000334.1:c.2788C>T | XP_016855823.1:p.Arg930Trp | |
| XM_017000335.1:c.2782C>T | XP_016855824.1:p.Arg928Trp | |
| XM_017000336.1:c.2788C>T | XP_016855825.1:p.Arg930Trp | |
| XM_017000337.1:c.1186C>T | XP_016855826.1:p.Arg396Trp | |
| NM_001854.4:c.2635C>T MANE Select | NP_001845.3:p.Arg879Trp | |
| NM_080630.4:c.2287C>T | NP_542197.3:p.Arg763Trp | |
| NR_134980.2:n.2995C>T | ||
| NM_001190709.2:c.2518C>T | NP_001177638.1:p.Arg840Trp | |
| NM_080629.3:c.2671C>T | NP_542196.2:p.Arg891Trp |