Linked Data
dbSNP Id:
rs1430047896
gnomAD v2:
7-105658353-G-C
gnomAD v3:
7-106017907-G-C
gnomAD v4:
7-106017907-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106017907G>C , CM000669.2:g.106017907G>C | GRCh38 |
| NC_000007.13:g.105658353G>C , CM000669.1:g.105658353G>C | GRCh37 |
| NC_000007.12:g.105445589G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317716.14:c.1488G>C MANE Select | ENSP00000325954.9:p.Leu496= | |
| ENST00000317716.13:c.1488G>C | ENSP00000325954.9:p.Leu496= | |
| ENST00000466045.1:c.700+1882G>C | ENSP00000419017.1:n.700+1882G>C | |
| ENST00000468477.1:c.60-2466G>C | ||
| ENST00000470188.5:n.1849+1882G>C | ||
| ENST00000478080.5:c.1224G>C | ENSP00000417771.1:p.Leu408= | |
| NM_001301161.1:c.1224G>C | NP_001288090.1:p.Leu408= | |
| NM_152750.4:c.1488G>C | NP_689963.2:p.Leu496= | |
| XM_005250224.3:c.1224G>C | XP_005250281.1:p.Leu408= | |
| XM_005250225.1:c.1488G>C | XP_005250282.1:p.Leu496= | |
| XM_005250226.1:c.432G>C | XP_005250283.1:p.Leu144= | |
| XM_006715905.1:c.1426+1882G>C | XP_006715968.1:n.1426+1882G>C | |
| XM_006715906.2:c.942G>C | XP_006715969.1:p.Leu314= | |
| XM_011515955.1:c.1488G>C | XP_011514257.1:p.Leu496= | |
| XM_011515956.1:c.942G>C | XP_011514258.1:p.Leu314= | |
| XM_011515957.1:c.1488G>C | XP_011514259.1:p.Leu496= | |
| XM_011515958.1:c.1426+1882G>C | XP_011514260.1:n.1426+1882G>C | |
| XM_011515959.1:c.432G>C | XP_011514261.1:p.Leu144= | |
| XR_927414.1:n.1564G>C | ||
| XM_005250224.5:c.1224G>C | XP_005250281.1:p.Leu408= | |
| XM_005250225.2:c.1488G>C | XP_005250282.1:p.Leu496= | |
| XM_006715905.2:c.1426+1882G>C | XP_006715968.1:n.1426+1882G>C | |
| XM_011515955.2:c.1488G>C | XP_011514257.1:p.Leu496= | |
| XM_011515956.2:c.942G>C | XP_011514258.1:p.Leu314= | |
| XM_011515957.2:c.1488G>C | XP_011514259.1:p.Leu496= | |
| XM_011515958.2:c.1426+1882G>C | XP_011514260.1:n.1426+1882G>C | |
| XM_011515959.2:c.432G>C | XP_011514261.1:p.Leu144= | |
| XM_017011862.1:c.1488G>C | XP_016867351.1:p.Leu496= | |
| XM_017011863.2:c.942G>C | XP_016867352.1:p.Leu314= | |
| XM_017011864.1:c.942G>C | XP_016867353.1:p.Leu314= | |
| XM_017011865.2:c.1162+1882G>C | XP_016867354.1:n.1162+1882G>C | |
| XM_017011866.2:c.639G>C | XP_016867355.1:p.Leu213= | |
| XM_017011867.2:c.880+1882G>C | XP_016867356.1:n.880+1882G>C | |
| XM_024446689.1:c.432G>C | XP_024302457.1:p.Leu144= | |
| XM_024446690.1:c.577+1882G>C | XP_024302458.1:n.577+1882G>C | |
| XR_001744598.1:n.1564G>C | ||
| XR_001744600.2:n.1564G>C | ||
| XR_001744601.2:n.1564G>C | ||
| XR_001744602.1:n.1581G>C | ||
| XR_001744603.2:n.1581G>C | ||
| XR_001744604.2:n.1502+1882G>C | ||
| XR_001744605.2:n.1502+1882G>C | ||
| XR_001744606.2:n.1502+1882G>C | ||
| XR_001744607.2:n.1502+1882G>C | ||
| XR_927414.2:n.1564G>C | ||
| NM_152750.5:c.1488G>C MANE Select | NP_689963.2:p.Leu496= | |
| NM_001301161.2:c.1224G>C | NP_001288090.1:p.Leu408= |