Linked Data
ClinVar Variation Id:
2052437
ClinVar RCV Id:
RCV002932733
dbSNP Id:
rs753173718
ExAC:
X:32382790 A / G
gnomAD v2:
X-32382790-A-G
gnomAD v4:
X-32364673-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32364673A>G , CM000685.2:g.32364673A>G | GRCh38 |
| NC_000023.10:g.32382790A>G , CM000685.1:g.32382790A>G | GRCh37 |
| NC_000023.9:g.32292711A>G | NCBI36 |
| NG_012232.1:g.979937T>C , LRG_199:g.979937T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.5063T>C MANE Select | ENSP00000354923.3:p.Val1688Ala | |
| ENST00000619831.5:c.1031T>C | ENSP00000479270.2:p.Val344Ala | |
| ENST00000357033.8:c.5063T>C | ENSP00000354923.3:p.Val1688Ala | |
| ENST00000378677.6:c.5051T>C | ENSP00000367948.2:p.Val1684Ala | |
| ENST00000488902.5:n.336-147610T>C | ||
| ENST00000619831.4:c.5051T>C | ENSP00000479270.1:p.Val1684Ala | |
| ENST00000620040.4:c.5063T>C | ENSP00000478150.1:p.Val1688Ala | |
| NM_000109.3:c.5039T>C | NP_000100.2:p.Val1680Ala | |
| NM_004006.2:c.5063T>C , LRG_199t1:c.5063T>C | NP_003997.1:p.Val1688Ala | |
| NM_004009.3:c.5051T>C | NP_004000.1:p.Val1684Ala | |
| NM_004010.3:c.4694T>C | NP_004001.1:p.Val1565Ala | |
| NM_004011.3:c.1040T>C | NP_004002.2:p.Val347Ala | |
| NM_004012.3:c.1031T>C | NP_004003.1:p.Val344Ala | |
| XM_006724468.2:c.5063T>C | XP_006724531.1:p.Val1688Ala | |
| XM_006724469.2:c.5039T>C | XP_006724532.1:p.Val1680Ala | |
| XM_006724470.2:c.5063T>C | XP_006724533.1:p.Val1688Ala | |
| XM_006724471.2:c.5063T>C | XP_006724534.1:p.Val1688Ala | |
| XM_006724472.2:c.4934T>C | XP_006724535.1:p.Val1645Ala | |
| XM_006724473.2:c.5063T>C | XP_006724536.1:p.Val1688Ala | |
| XM_006724474.2:c.5063T>C | XP_006724537.1:p.Val1688Ala | |
| XM_006724475.2:c.5063T>C | XP_006724538.1:p.Val1688Ala | |
| XM_011545467.1:c.5063T>C | XP_011543769.1:p.Val1688Ala | |
| XM_011545468.1:c.5063T>C | XP_011543770.1:p.Val1688Ala | |
| XM_011545469.1:c.5063T>C | XP_011543771.1:p.Val1688Ala | |
| XM_006724469.3:c.5039T>C | XP_006724532.1:p.Val1680Ala | |
| XM_006724470.3:c.5063T>C | XP_006724533.1:p.Val1688Ala | |
| XM_006724474.3:c.5063T>C | XP_006724537.1:p.Val1688Ala | |
| XM_011545468.2:c.5063T>C | XP_011543770.1:p.Val1688Ala | |
| XM_017029328.1:c.5063T>C | XP_016884817.1:p.Val1688Ala | |
| XM_017029329.1:c.5063T>C | XP_016884818.1:p.Val1688Ala | |
| XM_017029330.2:c.5063T>C | XP_016884819.1:p.Val1688Ala | |
| NM_000109.4:c.5039T>C | NP_000100.3:p.Val1680Ala | |
| NM_004006.3:c.5063T>C MANE Select | NP_003997.2:p.Val1688Ala | |
| NM_004011.4:c.1040T>C | NP_004002.3:p.Val347Ala | |
| NM_004012.4:c.1031T>C | NP_004003.2:p.Val344Ala |