Linked Data
ClinVar Variation Id:
260466
dbSNP Id:
rs12572862
ExAC:
10:27322303 C / G
gnomAD v2:
10-27322303-C-G
gnomAD v3:
10-27033374-C-G
gnomAD v4:
10-27033374-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27033374C>G , CM000672.2:g.27033374C>G | GRCh38 |
| NC_000010.10:g.27322303C>G , CM000672.1:g.27322303C>G | GRCh37 |
| NC_000010.9:g.27362309C>G | NCBI36 |
| NG_031973.2:g.72125G>C , LRG_605:g.72125G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376087.5:c.3658G>C MANE Select | ENSP00000365255.4:p.Val1220Leu | |
| ENST00000436985.7:c.3655G>C | ENSP00000405112.3:p.Val1219Leu | |
| ENST00000675116.1:c.1308G>C | ||
| ENST00000675936.1:c.74G>C | ||
| ENST00000376087.4:c.3658G>C | ENSP00000365255.4:p.Val1220Leu | |
| ENST00000436985.6:c.3706G>C | ENSP00000405112.2:p.Val1236Leu | |
| NM_001256053.1:c.3655G>C | NP_001242982.1:p.Val1219Leu | |
| NM_014915.2:c.3658G>C , LRG_605t1:c.3658G>C | NP_055730.2:p.Val1220Leu | |
| XM_006717423.2:c.4744G>C | XP_006717486.1:p.Val1582Leu | |
| XM_006717424.2:c.4741G>C | XP_006717487.1:p.Val1581Leu | |
| XM_006717425.2:c.4744G>C | XP_006717488.1:p.Val1582Leu | |
| XM_006717427.2:c.3901G>C | XP_006717490.1:p.Val1301Leu | |
| XM_006717428.2:c.3559G>C | XP_006717491.1:p.Val1187Leu | |
| XM_011519415.1:c.4732G>C | XP_011517717.1:p.Val1578Leu | |
| XM_011519416.1:c.4744G>C | XP_011517718.1:p.Val1582Leu | |
| XM_011519417.1:c.4744G>C | XP_011517719.1:p.Val1582Leu | |
| XM_011519418.1:c.4744G>C | XP_011517720.1:p.Val1582Leu | |
| XM_011519419.1:c.4645G>C | XP_011517721.1:p.Val1549Leu | |
| XM_011519420.1:c.4744G>C | XP_011517722.1:p.Val1582Leu | |
| XM_011519421.1:c.3901G>C | XP_011517723.1:p.Val1301Leu | |
| XM_011519422.1:c.4744G>C | XP_011517724.1:p.Val1582Leu | |
| XM_011519423.1:c.3901G>C | XP_011517725.1:p.Val1301Leu | |
| XM_011519424.1:c.3358G>C | XP_011517726.1:p.Val1120Leu | |
| XM_011519425.1:c.*20G>C | XP_011517727.1:n.*20G>C | |
| XR_930483.1:n.4916G>C | ||
| XR_930484.1:n.4916G>C | ||
| XM_006717425.4:c.4744G>C | XP_006717488.1:p.Val1582Leu | |
| XM_011519416.2:c.4744G>C | XP_011517718.1:p.Val1582Leu | |
| XM_017015928.1:c.4744G>C | XP_016871417.1:p.Val1582Leu | |
| XM_017015929.1:c.4732G>C | XP_016871418.1:p.Val1578Leu | |
| XM_017015930.1:c.4744G>C | XP_016871419.1:p.Val1582Leu | |
| XM_017015931.1:c.4744G>C | XP_016871420.1:p.Val1582Leu | |
| XM_017015932.1:c.4744G>C | XP_016871421.1:p.Val1582Leu | |
| XM_017015933.1:c.4744G>C | XP_016871422.1:p.Val1582Leu | |
| NM_001256053.2:c.3655G>C | NP_001242982.1:p.Val1219Leu | |
| NM_014915.3:c.3658G>C MANE Select | NP_055730.2:p.Val1220Leu |