Linked Data
ClinVar Variation Id:
2803344
ClinVar RCV Id:
RCV003679469
dbSNP Id:
rs761188097
ExAC:
17:58227412 C / T
gnomAD v2:
17-58227412-C-T
gnomAD v3:
17-60150051-C-T
gnomAD v4:
17-60150051-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60150051C>T , CM000679.2:g.60150051C>T | GRCh38 |
| NC_000017.10:g.58227412C>T , CM000679.1:g.58227412C>T | GRCh37 |
| NC_000017.9:g.55582194C>T | NCBI36 |
| NG_012050.1:g.5111C>T | |
| NG_012050.2:g.5111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.17C>T MANE Select | ENSP00000300900.3:p.Ala6Val | |
| ENST00000300900.8:c.17C>T | ENSP00000300900.3:p.Ala6Val | |
| ENST00000585705.5:n.110C>T | ||
| ENST00000586876.1:c.17C>T | ENSP00000467465.1:p.Ala6Val | |
| ENST00000591725.1:c.-342C>T | ENSP00000466964.1:n.-342C>T | |
| NM_000717.3:c.17C>T | NP_000708.1:p.Ala6Val | |
| XM_005257639.1:c.17C>T | XP_005257696.1:p.Ala6Val | |
| NM_000717.4:c.17C>T | NP_000708.1:p.Ala6Val | |
| NR_137422.1:n.116C>T | ||
| XM_005257639.3:c.17C>T | XP_005257696.1:p.Ala6Val | |
| XR_001752604.2:n.110C>T | ||
| XR_001752605.2:n.110C>T | ||
| XR_001752606.2:n.110C>T | ||
| XR_001752607.2:n.110C>T | ||
| XR_001752608.2:n.110C>T | ||
| XR_001752609.2:n.110C>T | ||
| XR_001752610.2:n.110C>T | ||
| NM_000717.5:c.17C>T MANE Select | NP_000708.1:p.Ala6Val | |
| NR_137422.2:n.79C>T |