Linked Data
ClinVar Variation Id:
1696705
ClinVar RCV Id:
RCV002266835
dbSNP Id:
rs2129557711
gnomAD v4:
7-70768046-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70768046T>C , CM000669.2:g.70768046T>C | GRCh38 |
| NC_000007.13:g.70233032T>C , CM000669.1:g.70233032T>C | GRCh37 |
| NC_000007.12:g.69870968T>C | NCBI36 |
| NG_034133.1:g.1174128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.1712T>C MANE Select | ENSP00000344087.4:p.Val571Ala | |
| ENST00000443672.2:c.47T>C | ENSP00000393548.2:p.Val16Ala | |
| ENST00000483297.2:n.34T>C | ||
| ENST00000644359.1:c.315+1712T>C | ENSP00000494561.1:n.315+1712T>C | |
| ENST00000644506.1:c.338T>C | ENSP00000496672.1:p.Val113Ala | |
| ENST00000644939.1:c.1709T>C | ENSP00000496726.1:p.Val570Ala | |
| ENST00000644949.1:c.145T>C | ||
| ENST00000647140.1:c.577T>C | ||
| ENST00000656200.1:c.338T>C | ENSP00000499508.1:p.Val113Ala | |
| ENST00000342771.8:c.1712T>C | ENSP00000344087.4:p.Val571Ala | |
| ENST00000406775.6:c.1712T>C | ENSP00000385263.2:p.Val571Ala | |
| ENST00000443672.1:c.314+1712T>C | ||
| ENST00000481994.1:n.296+1712T>C | ||
| ENST00000483297.1:n.23T>C | ||
| ENST00000611706.4:c.968T>C | ENSP00000478134.1:p.Val323Ala | |
| ENST00000615871.4:c.968T>C | ENSP00000479325.1:p.Val323Ala | |
| NM_001127231.2:c.1712T>C | NP_001120703.1:p.Val571Ala | |
| NM_015570.3:c.1712T>C | NP_056385.1:p.Val571Ala | |
| XM_005250257.1:c.359T>C | XP_005250314.1:p.Val120Ala | |
| XM_011516010.1:c.1733T>C | XP_011514312.1:p.Val578Ala | |
| XM_011516011.1:c.1730T>C | XP_011514313.1:p.Val577Ala | |
| XM_011516012.1:c.1689+1712T>C | XP_011514314.1:n.1689+1712T>C | |
| XM_011516013.1:c.1733T>C | XP_011514315.1:p.Val578Ala | |
| XM_011516014.1:c.1733T>C | XP_011514316.1:p.Val578Ala | |
| XM_011516015.1:c.1689+1712T>C | XP_011514317.1:n.1689+1712T>C | |
| XM_011516016.1:c.1442T>C | XP_011514318.1:p.Val481Ala | |
| XM_011516017.1:c.1259T>C | XP_011514319.1:p.Val420Ala | |
| XM_011516018.1:c.1232T>C | XP_011514320.1:p.Val411Ala | |
| XM_005250257.2:c.359T>C | XP_005250314.1:p.Val120Ala | |
| XM_011516010.2:c.1733T>C | XP_011514312.1:p.Val578Ala | |
| XM_011516011.2:c.1730T>C | XP_011514313.1:p.Val577Ala | |
| XM_011516012.2:c.1689+1712T>C | XP_011514314.1:n.1689+1712T>C | |
| XM_011516013.2:c.1733T>C | XP_011514315.1:p.Val578Ala | |
| XM_011516014.2:c.1733T>C | XP_011514316.1:p.Val578Ala | |
| XM_011516017.2:c.1259T>C | XP_011514319.1:p.Val420Ala | |
| XM_011516018.2:c.1232T>C | XP_011514320.1:p.Val411Ala | |
| XM_017011951.2:c.1733T>C | XP_016867440.1:p.Val578Ala | |
| NM_001127231.3:c.1712T>C | NP_001120703.1:p.Val571Ala | |
| NM_015570.4:c.1712T>C MANE Select | NP_056385.1:p.Val571Ala |