Linked Data
dbSNP Id:
rs1835934269
gnomAD v3:
7-106018069-C-A
gnomAD v4:
7-106018069-C-A
MyVariant Identifiers:
chr7:g.105658515C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106018069C>A , CM000669.2:g.106018069C>A | GRCh38 |
| NC_000007.13:g.105658515C>A , CM000669.1:g.105658515C>A | GRCh37 |
| NC_000007.12:g.105445751C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317716.14:c.1650C>A MANE Select | ENSP00000325954.9:p.Val550= | |
| ENST00000317716.13:c.1650C>A | ENSP00000325954.9:p.Val550= | |
| ENST00000466045.1:c.700+2044C>A | ENSP00000419017.1:n.700+2044C>A | |
| ENST00000468477.1:c.60-2304C>A | ||
| ENST00000470188.5:n.1849+2044C>A | ||
| ENST00000478080.5:c.1386C>A | ENSP00000417771.1:p.Val462= | |
| NM_001301161.1:c.1386C>A | NP_001288090.1:p.Val462= | |
| NM_152750.4:c.1650C>A | NP_689963.2:p.Val550= | |
| XM_005250224.3:c.1386C>A | XP_005250281.1:p.Val462= | |
| XM_005250225.1:c.1650C>A | XP_005250282.1:p.Val550= | |
| XM_005250226.1:c.594C>A | XP_005250283.1:p.Val198= | |
| XM_006715905.1:c.1426+2044C>A | XP_006715968.1:n.1426+2044C>A | |
| XM_006715906.2:c.1104C>A | XP_006715969.1:p.Val368= | |
| XM_011515955.1:c.1650C>A | XP_011514257.1:p.Val550= | |
| XM_011515956.1:c.1104C>A | XP_011514258.1:p.Val368= | |
| XM_011515957.1:c.1650C>A | XP_011514259.1:p.Val550= | |
| XM_011515958.1:c.1426+2044C>A | XP_011514260.1:n.1426+2044C>A | |
| XM_011515959.1:c.594C>A | XP_011514261.1:p.Val198= | |
| XR_927414.1:n.1726C>A | ||
| XM_005250224.5:c.1386C>A | XP_005250281.1:p.Val462= | |
| XM_005250225.2:c.1650C>A | XP_005250282.1:p.Val550= | |
| XM_006715905.2:c.1426+2044C>A | XP_006715968.1:n.1426+2044C>A | |
| XM_011515955.2:c.1650C>A | XP_011514257.1:p.Val550= | |
| XM_011515956.2:c.1104C>A | XP_011514258.1:p.Val368= | |
| XM_011515957.2:c.1650C>A | XP_011514259.1:p.Val550= | |
| XM_011515958.2:c.1426+2044C>A | XP_011514260.1:n.1426+2044C>A | |
| XM_011515959.2:c.594C>A | XP_011514261.1:p.Val198= | |
| XM_017011862.1:c.1650C>A | XP_016867351.1:p.Val550= | |
| XM_017011863.2:c.1104C>A | XP_016867352.1:p.Val368= | |
| XM_017011864.1:c.1104C>A | XP_016867353.1:p.Val368= | |
| XM_017011865.2:c.1162+2044C>A | XP_016867354.1:n.1162+2044C>A | |
| XM_017011866.2:c.801C>A | XP_016867355.1:p.Val267= | |
| XM_017011867.2:c.880+2044C>A | XP_016867356.1:n.880+2044C>A | |
| XM_024446689.1:c.594C>A | XP_024302457.1:p.Val198= | |
| XM_024446690.1:c.577+2044C>A | XP_024302458.1:n.577+2044C>A | |
| XR_001744598.1:n.1726C>A | ||
| XR_001744600.2:n.1726C>A | ||
| XR_001744601.2:n.1726C>A | ||
| XR_001744602.1:n.1743C>A | ||
| XR_001744603.2:n.1743C>A | ||
| XR_001744604.2:n.1502+2044C>A | ||
| XR_001744605.2:n.1502+2044C>A | ||
| XR_001744606.2:n.1502+2044C>A | ||
| XR_001744607.2:n.1502+2044C>A | ||
| XR_927414.2:n.1726C>A | ||
| NM_152750.5:c.1650C>A MANE Select | NP_689963.2:p.Val550= | |
| NM_001301161.2:c.1386C>A | NP_001288090.1:p.Val462= |