Linked Data
ClinVar Variation Id:
228583
dbSNP Id:
rs779099343
ExAC:
X:32841471 C / T
gnomAD v2:
X-32841471-C-T
gnomAD v3:
X-32823354-C-T
gnomAD v4:
X-32823354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32823354C>T , CM000685.2:g.32823354C>T | GRCh38 |
| NC_000023.10:g.32841471C>T , CM000685.1:g.32841471C>T | GRCh37 |
| NC_000023.9:g.32751392C>T | NCBI36 |
| NG_012232.1:g.521256G>A , LRG_199:g.521256G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682071.1:c.-72G>A | ENSP00000508133.1:n.-72G>A | |
| ENST00000682437.1:n.622G>A | ||
| ENST00000682584.1:n.622G>A | ||
| ENST00000682870.1:n.483G>A | ||
| ENST00000682899.1:n.505G>A | ||
| ENST00000682924.1:c.298G>A | ENSP00000508187.1:p.Val100Ile | |
| ENST00000683309.1:n.482G>A | ||
| ENST00000683658.1:n.643G>A | ||
| ENST00000683985.1:n.505G>A | ||
| ENST00000684056.1:n.482G>A | ||
| ENST00000684165.1:n.505G>A | ||
| ENST00000684237.1:c.298G>A | ENSP00000507277.1:p.Val100Ile | |
| ENST00000684292.1:n.505G>A | ||
| ENST00000684357.1:n.482G>A | ||
| ENST00000684660.1:n.483G>A | ||
| ENST00000288447.9:c.274G>A | ENSP00000288447.4:p.Val92Ile | |
| ENST00000357033.9:c.298G>A MANE Select | ENSP00000354923.3:p.Val100Ile | |
| ENST00000288447.8:c.274G>A | ENSP00000288447.4:p.Val92Ile | |
| ENST00000357033.8:c.298G>A | ENSP00000354923.3:p.Val100Ile | |
| ENST00000378677.6:c.286G>A | ENSP00000367948.2:p.Val96Ile | |
| ENST00000420596.5:c.93+196785G>A | ENSP00000399897.1:n.93+196785G>A | |
| ENST00000447523.1:c.187G>A | ENSP00000395904.1:p.Val63Ile | |
| ENST00000448370.5:c.93+196785G>A | ENSP00000388559.1:n.93+196785G>A | |
| ENST00000488902.5:n.335+196785G>A | ||
| ENST00000619831.4:c.286G>A | ENSP00000479270.1:p.Val96Ile | |
| ENST00000620040.4:c.298G>A | ENSP00000478150.1:p.Val100Ile | |
| NM_000109.3:c.274G>A | NP_000100.2:p.Val92Ile | |
| NM_004006.2:c.298G>A , LRG_199t1:c.298G>A | NP_003997.1:p.Val100Ile | |
| NM_004009.3:c.286G>A | NP_004000.1:p.Val96Ile | |
| NM_004010.3:c.-72G>A | NP_004001.1:n.-72G>A | |
| XM_006724468.2:c.298G>A | XP_006724531.1:p.Val100Ile | |
| XM_006724469.2:c.274G>A | XP_006724532.1:p.Val92Ile | |
| XM_006724470.2:c.298G>A | XP_006724533.1:p.Val100Ile | |
| XM_006724471.2:c.298G>A | XP_006724534.1:p.Val100Ile | |
| XM_006724472.2:c.298G>A | XP_006724535.1:p.Val100Ile | |
| XM_006724473.2:c.298G>A | XP_006724536.1:p.Val100Ile | |
| XM_006724474.2:c.298G>A | XP_006724537.1:p.Val100Ile | |
| XM_006724475.2:c.298G>A | XP_006724538.1:p.Val100Ile | |
| XM_011545467.1:c.298G>A | XP_011543769.1:p.Val100Ile | |
| XM_011545468.1:c.298G>A | XP_011543770.1:p.Val100Ile | |
| XM_011545469.1:c.298G>A | XP_011543771.1:p.Val100Ile | |
| XM_006724469.3:c.274G>A | XP_006724532.1:p.Val92Ile | |
| XM_006724470.3:c.298G>A | XP_006724533.1:p.Val100Ile | |
| XM_006724474.3:c.298G>A | XP_006724537.1:p.Val100Ile | |
| XM_011545468.2:c.298G>A | XP_011543770.1:p.Val100Ile | |
| XM_017029328.1:c.298G>A | XP_016884817.1:p.Val100Ile | |
| XM_017029329.1:c.298G>A | XP_016884818.1:p.Val100Ile | |
| XM_017029330.2:c.298G>A | XP_016884819.1:p.Val100Ile | |
| NM_000109.4:c.274G>A | NP_000100.3:p.Val92Ile | |
| NM_004006.3:c.298G>A MANE Select | NP_003997.2:p.Val100Ile |