Linked Data
ClinVar Variation Id:
1051975
ClinVar RCV Id:
RCV001360085
dbSNP Id:
rs769324102
ExAC:
X:32361318 T / A
gnomAD v2:
X-32361318-T-A
gnomAD v3:
X-32343201-T-A
gnomAD v4:
X-32343201-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32343201T>A , CM000685.2:g.32343201T>A | GRCh38 |
| NC_000023.10:g.32361318T>A , CM000685.1:g.32361318T>A | GRCh37 |
| NC_000023.9:g.32271239T>A | NCBI36 |
| NG_012232.1:g.1001409A>T , LRG_199:g.1001409A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.518A>T | ENSP00000350765.3:p.Lys173Ile | |
| ENST00000357033.9:c.5672A>T MANE Select | ENSP00000354923.3:p.Lys1891Ile | |
| ENST00000619831.5:c.1640A>T | ENSP00000479270.2:p.Lys547Ile | |
| ENST00000357033.8:c.5672A>T | ENSP00000354923.3:p.Lys1891Ile | |
| ENST00000378677.6:c.5660A>T | ENSP00000367948.2:p.Lys1887Ile | |
| ENST00000488902.5:n.336-126138A>T | ||
| ENST00000493412.1:c.329A>T | ENSP00000417725.1:p.Lys110Ile | |
| ENST00000619831.4:c.5660A>T | ENSP00000479270.1:p.Lys1887Ile | |
| ENST00000620040.4:c.5672A>T | ENSP00000478150.1:p.Lys1891Ile | |
| NM_000109.3:c.5648A>T | NP_000100.2:p.Lys1883Ile | |
| NM_004006.2:c.5672A>T , LRG_199t1:c.5672A>T | NP_003997.1:p.Lys1891Ile | |
| NM_004009.3:c.5660A>T | NP_004000.1:p.Lys1887Ile | |
| NM_004010.3:c.5303A>T | NP_004001.1:p.Lys1768Ile | |
| NM_004011.3:c.1649A>T | NP_004002.2:p.Lys550Ile | |
| NM_004012.3:c.1640A>T | NP_004003.1:p.Lys547Ile | |
| XM_006724468.2:c.5672A>T | XP_006724531.1:p.Lys1891Ile | |
| XM_006724469.2:c.5648A>T | XP_006724532.1:p.Lys1883Ile | |
| XM_006724470.2:c.5672A>T | XP_006724533.1:p.Lys1891Ile | |
| XM_006724471.2:c.5672A>T | XP_006724534.1:p.Lys1891Ile | |
| XM_006724472.2:c.5543A>T | XP_006724535.1:p.Lys1848Ile | |
| XM_006724473.2:c.5534A>T | XP_006724536.1:p.Lys1845Ile | |
| XM_006724474.2:c.5672A>T | XP_006724537.1:p.Lys1891Ile | |
| XM_006724475.2:c.5672A>T | XP_006724538.1:p.Lys1891Ile | |
| XM_011545467.1:c.5549A>T | XP_011543769.1:p.Lys1850Ile | |
| XM_011545468.1:c.5672A>T | XP_011543770.1:p.Lys1891Ile | |
| XM_011545469.1:c.5672A>T | XP_011543771.1:p.Lys1891Ile | |
| XM_006724469.3:c.5648A>T | XP_006724532.1:p.Lys1883Ile | |
| XM_006724470.3:c.5672A>T | XP_006724533.1:p.Lys1891Ile | |
| XM_006724474.3:c.5672A>T | XP_006724537.1:p.Lys1891Ile | |
| XM_011545468.2:c.5672A>T | XP_011543770.1:p.Lys1891Ile | |
| XM_017029328.1:c.5672A>T | XP_016884817.1:p.Lys1891Ile | |
| XM_017029329.1:c.5672A>T | XP_016884818.1:p.Lys1891Ile | |
| XM_017029330.2:c.5672A>T | XP_016884819.1:p.Lys1891Ile | |
| NM_000109.4:c.5648A>T | NP_000100.3:p.Lys1883Ile | |
| NM_004006.3:c.5672A>T MANE Select | NP_003997.2:p.Lys1891Ile | |
| NM_004011.4:c.1649A>T | NP_004002.3:p.Lys550Ile | |
| NM_004012.4:c.1640A>T | NP_004003.2:p.Lys547Ile |