Linked Data
ClinVar Variation Id:
94616
ClinVar RCV Id:
RCV000080605
RCV000243182
RCV000467777
RCV000853040
RCV000710122
RCV001167970
RCV001831849
RCV004537359
dbSNP Id:
rs147474070
ExAC:
X:32429867 G / A
gnomAD v2:
X-32429867-G-A
gnomAD v3:
X-32411750-G-A
gnomAD v4:
X-32411750-G-A
PubMed:
PMID:17259292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32411750G>A , CM000685.2:g.32411750G>A | GRCh38 |
| NC_000023.10:g.32429867G>A , CM000685.1:g.32429867G>A | GRCh37 |
| NC_000023.9:g.32339788G>A | NCBI36 |
| NG_012232.1:g.932860C>T , LRG_199:g.932860C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.4233+2C>T MANE Select | ENSP00000354923.3:n.4233+2C>T | |
| ENST00000619831.5:c.201+2C>T | ENSP00000479270.2:n.201+2C>T | |
| ENST00000357033.8:c.4233+2C>T | ENSP00000354923.3:n.4233+2C>T | |
| ENST00000378677.6:c.4221+2C>T | ENSP00000367948.2:n.4221+2C>T | |
| ENST00000420596.5:c.94-46551C>T | ENSP00000399897.1:n.94-46551C>T | |
| ENST00000448370.5:c.94-47040C>T | ENSP00000388559.1:n.94-47040C>T | |
| ENST00000488902.5:n.336-194687C>T | ||
| ENST00000619831.4:c.4221+2C>T | ENSP00000479270.1:n.4221+2C>T | |
| ENST00000620040.4:c.4233+2C>T | ENSP00000478150.1:n.4233+2C>T | |
| NM_000109.3:c.4209+2C>T | NP_000100.2:n.4209+2C>T | |
| NM_004006.2:c.4233+2C>T , LRG_199t1:c.4233+2C>T | NP_003997.1:n.4233+2C>T | |
| NM_004009.3:c.4221+2C>T | NP_004000.1:n.4221+2C>T | |
| NM_004010.3:c.3864+2C>T | NP_004001.1:n.3864+2C>T | |
| NM_004011.3:c.210+2C>T | NP_004002.2:n.210+2C>T | |
| NM_004012.3:c.201+2C>T | NP_004003.1:n.201+2C>T | |
| XM_006724468.2:c.4233+2C>T | XP_006724531.1:n.4233+2C>T | |
| XM_006724469.2:c.4209+2C>T | XP_006724532.1:n.4209+2C>T | |
| XM_006724470.2:c.4233+2C>T | XP_006724533.1:n.4233+2C>T | |
| XM_006724471.2:c.4233+2C>T | XP_006724534.1:n.4233+2C>T | |
| XM_006724472.2:c.4104+2C>T | XP_006724535.1:n.4104+2C>T | |
| XM_006724473.2:c.4233+2C>T | XP_006724536.1:n.4233+2C>T | |
| XM_006724474.2:c.4233+2C>T | XP_006724537.1:n.4233+2C>T | |
| XM_006724475.2:c.4233+2C>T | XP_006724538.1:n.4233+2C>T | |
| XM_011545467.1:c.4233+2C>T | XP_011543769.1:n.4233+2C>T | |
| XM_011545468.1:c.4233+2C>T | XP_011543770.1:n.4233+2C>T | |
| XM_011545469.1:c.4233+2C>T | XP_011543771.1:n.4233+2C>T | |
| XM_006724469.3:c.4209+2C>T | XP_006724532.1:n.4209+2C>T | |
| XM_006724470.3:c.4233+2C>T | XP_006724533.1:n.4233+2C>T | |
| XM_006724474.3:c.4233+2C>T | XP_006724537.1:n.4233+2C>T | |
| XM_011545468.2:c.4233+2C>T | XP_011543770.1:n.4233+2C>T | |
| XM_017029328.1:c.4233+2C>T | XP_016884817.1:n.4233+2C>T | |
| XM_017029329.1:c.4233+2C>T | XP_016884818.1:n.4233+2C>T | |
| XM_017029330.2:c.4233+2C>T | XP_016884819.1:n.4233+2C>T | |
| NM_000109.4:c.4209+2C>T | NP_000100.3:n.4209+2C>T | |
| NM_004006.3:c.4233+2C>T MANE Select | NP_003997.2:n.4233+2C>T | |
| NM_004011.4:c.210+2C>T | NP_004002.3:n.210+2C>T | |
| NM_004012.4:c.201+2C>T | NP_004003.2:n.201+2C>T |