Linked Data
ClinVar Variation Id:
94656
ClinVar RCV Id:
RCV000212487
RCV000514541
RCV000621386
RCV001085478
RCV001826752
RCV001167365
RCV004537360
dbSNP Id:
rs34102501
ExAC:
X:32381048 G / A
gnomAD v2:
X-32381048-G-A
gnomAD v3:
X-32362931-G-A
gnomAD v4:
X-32362931-G-A
PubMed:
PMID:19937601
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32362931G>A , CM000685.2:g.32362931G>A | GRCh38 |
| NC_000023.10:g.32381048G>A , CM000685.1:g.32381048G>A | GRCh37 |
| NC_000023.9:g.32290969G>A | NCBI36 |
| NG_012232.1:g.981679C>T , LRG_199:g.981679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.28C>T | ENSP00000350765.3:p.Arg10Cys | |
| ENST00000357033.9:c.5182C>T MANE Select | ENSP00000354923.3:p.Arg1728Cys | |
| ENST00000619831.5:c.1150C>T | ENSP00000479270.2:p.Arg384Cys | |
| ENST00000357033.8:c.5182C>T | ENSP00000354923.3:p.Arg1728Cys | |
| ENST00000378677.6:c.5170C>T | ENSP00000367948.2:p.Arg1724Cys | |
| ENST00000488902.5:n.336-145868C>T | ||
| ENST00000619831.4:c.5170C>T | ENSP00000479270.1:p.Arg1724Cys | |
| ENST00000620040.4:c.5182C>T | ENSP00000478150.1:p.Arg1728Cys | |
| NM_000109.3:c.5158C>T | NP_000100.2:p.Arg1720Cys | |
| NM_004006.2:c.5182C>T , LRG_199t1:c.5182C>T | NP_003997.1:p.Arg1728Cys | |
| NM_004009.3:c.5170C>T | NP_004000.1:p.Arg1724Cys | |
| NM_004010.3:c.4813C>T | NP_004001.1:p.Arg1605Cys | |
| NM_004011.3:c.1159C>T | NP_004002.2:p.Arg387Cys | |
| NM_004012.3:c.1150C>T | NP_004003.1:p.Arg384Cys | |
| XM_006724468.2:c.5182C>T | XP_006724531.1:p.Arg1728Cys | |
| XM_006724469.2:c.5158C>T | XP_006724532.1:p.Arg1720Cys | |
| XM_006724470.2:c.5182C>T | XP_006724533.1:p.Arg1728Cys | |
| XM_006724471.2:c.5182C>T | XP_006724534.1:p.Arg1728Cys | |
| XM_006724472.2:c.5053C>T | XP_006724535.1:p.Arg1685Cys | |
| XM_006724473.2:c.5182C>T | XP_006724536.1:p.Arg1728Cys | |
| XM_006724474.2:c.5182C>T | XP_006724537.1:p.Arg1728Cys | |
| XM_006724475.2:c.5182C>T | XP_006724538.1:p.Arg1728Cys | |
| XM_011545467.1:c.5182C>T | XP_011543769.1:p.Arg1728Cys | |
| XM_011545468.1:c.5182C>T | XP_011543770.1:p.Arg1728Cys | |
| XM_011545469.1:c.5182C>T | XP_011543771.1:p.Arg1728Cys | |
| XM_006724469.3:c.5158C>T | XP_006724532.1:p.Arg1720Cys | |
| XM_006724470.3:c.5182C>T | XP_006724533.1:p.Arg1728Cys | |
| XM_006724474.3:c.5182C>T | XP_006724537.1:p.Arg1728Cys | |
| XM_011545468.2:c.5182C>T | XP_011543770.1:p.Arg1728Cys | |
| XM_017029328.1:c.5182C>T | XP_016884817.1:p.Arg1728Cys | |
| XM_017029329.1:c.5182C>T | XP_016884818.1:p.Arg1728Cys | |
| XM_017029330.2:c.5182C>T | XP_016884819.1:p.Arg1728Cys | |
| NM_000109.4:c.5158C>T | NP_000100.3:p.Arg1720Cys | |
| NM_004006.3:c.5182C>T MANE Select | NP_003997.2:p.Arg1728Cys | |
| NM_004011.4:c.1159C>T | NP_004002.3:p.Arg387Cys | |
| NM_004012.4:c.1150C>T | NP_004003.2:p.Arg384Cys |