Linked Data
ClinVar Variation Id:
1976980
ClinVar RCV Id:
RCV002736409
dbSNP Id:
rs375752532
ExAC:
1:103444635 C / T
gnomAD v2:
1-103444635-C-T
gnomAD v3:
1-102979079-C-T
gnomAD v4:
1-102979079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102979079C>T , CM000663.2:g.102979079C>T | GRCh38 |
| NC_000001.10:g.103444635C>T , CM000663.1:g.103444635C>T | GRCh37 |
| NC_000001.9:g.103217223C>T | NCBI36 |
| NG_008033.1:g.134418G>A | |
| NG_008033.2:g.134418G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2636G>A MANE Select | ENSP00000359114.3:p.Arg879Gln | |
| ENST00000353414.8:c.2519G>A | ENSP00000302551.6:p.Arg840Gln | |
| ENST00000358392.6:c.2672G>A | ENSP00000351163.2:p.Arg891Gln | |
| ENST00000370096.7:c.2636G>A | ENSP00000359114.3:p.Arg879Gln | |
| ENST00000512756.5:c.2288G>A | ENSP00000426533.1:p.Arg763Gln | |
| ENST00000635193.1:c.1970G>A | ||
| NM_001190709.1:c.2519G>A | NP_001177638.1:p.Arg840Gln | |
| NM_001854.3:c.2636G>A | NP_001845.3:p.Arg879Gln | |
| NM_080629.2:c.2672G>A | NP_542196.2:p.Arg891Gln | |
| NM_080630.3:c.2288G>A | NP_542197.3:p.Arg763Gln | |
| XM_011540719.1:c.2636G>A | XP_011539021.1:p.Arg879Gln | |
| XM_011540720.1:c.869G>A | XP_011539022.1:p.Arg290Gln | |
| XM_011540721.1:c.224G>A | XP_011539023.1:p.Arg75Gln | |
| XR_946545.1:n.3050G>A | ||
| NR_134980.1:n.2970G>A | ||
| XM_017000334.1:c.2789G>A | XP_016855823.1:p.Arg930Gln | |
| XM_017000335.1:c.2783G>A | XP_016855824.1:p.Arg928Gln | |
| XM_017000336.1:c.2789G>A | XP_016855825.1:p.Arg930Gln | |
| XM_017000337.1:c.1187G>A | XP_016855826.1:p.Arg396Gln | |
| NM_001854.4:c.2636G>A MANE Select | NP_001845.3:p.Arg879Gln | |
| NM_080630.4:c.2288G>A | NP_542197.3:p.Arg763Gln | |
| NR_134980.2:n.2996G>A | ||
| NM_001190709.2:c.2519G>A | NP_001177638.1:p.Arg840Gln | |
| NM_080629.3:c.2672G>A | NP_542196.2:p.Arg891Gln |