Linked Data
ClinVar Variation Id:
2343624
ClinVar RCV Id:
RCV004183790
dbSNP Id:
rs758744992
ExAC:
8:66619371 G / C
gnomAD v2:
8-66619371-G-C
gnomAD v3:
8-65707136-G-C
gnomAD v4:
8-65707136-G-C
COSMIC:
COSM454745
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.65707136G>C , CM000670.2:g.65707136G>C | GRCh38 |
| NC_000008.10:g.66619371G>C , CM000670.1:g.66619371G>C | GRCh37 |
| NC_000008.9:g.66781925G>C | NCBI36 |
| NG_047112.1:g.68264G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262146.9:c.644G>C MANE Select | ENSP00000262146.4:p.Arg215Thr | |
| ENST00000262146.8:c.644G>C | ENSP00000262146.4:p.Arg215Thr | |
| ENST00000424808.6:n.770G>C | ||
| ENST00000458689.2:c.545G>C | ENSP00000391502.2:p.Arg182Thr | |
| ENST00000517944.5:n.763G>C | ||
| ENST00000518800.5:c.517G>C | ||
| ENST00000521247.6:c.92G>C | ENSP00000429253.2:p.Arg31Thr | |
| ENST00000527155.5:c.84G>C | ||
| NM_001145838.1:c.545G>C | NP_001139310.1:p.Arg182Thr | |
| NM_001145839.1:c.644G>C | NP_001139311.1:p.Arg215Thr | |
| NM_014637.3:c.644G>C | NP_055452.3:p.Arg215Thr | |
| XM_006716484.2:c.644G>C | XP_006716547.2:p.Arg215Thr | |
| XM_011517626.1:c.644G>C | XP_011515928.1:p.Arg215Thr | |
| XM_011517627.1:c.644G>C | XP_011515929.1:p.Arg215Thr | |
| XM_011517628.1:c.605G>C | XP_011515930.1:p.Arg202Thr | |
| XM_011517626.2:c.644G>C | XP_011515928.1:p.Arg215Thr | |
| XM_011517627.3:c.644G>C | XP_011515929.1:p.Arg215Thr | |
| XM_011517628.2:c.605G>C | XP_011515930.1:p.Arg202Thr | |
| NM_014637.4:c.644G>C MANE Select | NP_055452.3:p.Arg215Thr | |
| NM_001145839.2:c.644G>C | NP_001139311.1:p.Arg215Thr |