Linked Data
ClinVar Variation Id:
228593
dbSNP Id:
rs750033728
gnomAD v2:
X-32305831-A-C
gnomAD v3:
X-32287714-A-C
gnomAD v4:
X-32287714-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32287714A>C , CM000685.2:g.32287714A>C | GRCh38 |
| NC_000023.10:g.32305831A>C , CM000685.1:g.32305831A>C | GRCh37 |
| NC_000023.9:g.32215752A>C | NCBI36 |
| NG_012232.1:g.1056896T>G , LRG_199:g.1056896T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.964-13T>G | ENSP00000350765.3:n.964-13T>G | |
| ENST00000357033.9:c.6118-13T>G MANE Select | ENSP00000354923.3:n.6118-13T>G | |
| ENST00000619831.5:c.2086-13T>G | ENSP00000479270.2:n.2086-13T>G | |
| ENST00000357033.8:c.6118-13T>G | ENSP00000354923.3:n.6118-13T>G | |
| ENST00000378677.6:c.6106-13T>G | ENSP00000367948.2:n.6106-13T>G | |
| ENST00000488902.5:n.336-70651T>G | ||
| ENST00000619831.4:c.6106-13T>G | ENSP00000479270.1:n.6106-13T>G | |
| ENST00000620040.4:c.6118-13T>G | ENSP00000478150.1:n.6118-13T>G | |
| NM_000109.3:c.6094-13T>G | NP_000100.2:n.6094-13T>G | |
| NM_004006.2:c.6118-13T>G , LRG_199t1:c.6118-13T>G | NP_003997.1:n.6118-13T>G | |
| NM_004009.3:c.6106-13T>G | NP_004000.1:n.6106-13T>G | |
| NM_004010.3:c.5749-13T>G | NP_004001.1:n.5749-13T>G | |
| NM_004011.3:c.2095-13T>G | NP_004002.2:n.2095-13T>G | |
| NM_004012.3:c.2086-13T>G | NP_004003.1:n.2086-13T>G | |
| XM_006724468.2:c.6118-13T>G | XP_006724531.1:n.6118-13T>G | |
| XM_006724469.2:c.6094-13T>G | XP_006724532.1:n.6094-13T>G | |
| XM_006724470.2:c.6118-13T>G | XP_006724533.1:n.6118-13T>G | |
| XM_006724471.2:c.6118-13T>G | XP_006724534.1:n.6118-13T>G | |
| XM_006724472.2:c.5989-13T>G | XP_006724535.1:n.5989-13T>G | |
| XM_006724473.2:c.5980-13T>G | XP_006724536.1:n.5980-13T>G | |
| XM_006724474.2:c.6118-13T>G | XP_006724537.1:n.6118-13T>G | |
| XM_006724475.2:c.6118-13T>G | XP_006724538.1:n.6118-13T>G | |
| XM_011545467.1:c.5995-13T>G | XP_011543769.1:n.5995-13T>G | |
| XM_011545468.1:c.6118-13T>G | XP_011543770.1:n.6118-13T>G | |
| XM_006724469.3:c.6094-13T>G | XP_006724532.1:n.6094-13T>G | |
| XM_006724470.3:c.6118-13T>G | XP_006724533.1:n.6118-13T>G | |
| XM_006724474.3:c.6118-13T>G | XP_006724537.1:n.6118-13T>G | |
| XM_011545468.2:c.6118-13T>G | XP_011543770.1:n.6118-13T>G | |
| XM_017029328.1:c.6118-13T>G | XP_016884817.1:n.6118-13T>G | |
| XM_017029329.1:c.6118-13T>G | XP_016884818.1:n.6118-13T>G | |
| XM_017029330.2:c.6118-13T>G | XP_016884819.1:n.6118-13T>G | |
| XM_017029331.1:c.292-13T>G | XP_016884820.1:n.292-13T>G | |
| NM_000109.4:c.6094-13T>G | NP_000100.3:n.6094-13T>G | |
| NM_004006.3:c.6118-13T>G MANE Select | NP_003997.2:n.6118-13T>G | |
| NM_004011.4:c.2095-13T>G | NP_004002.3:n.2095-13T>G | |
| NM_004012.4:c.2086-13T>G | NP_004003.2:n.2086-13T>G |