Linked Data
ClinVar Variation Id:
706796
dbSNP Id:
rs780018882
ExAC:
X:32305798 T / C
gnomAD v2:
X-32305798-T-C
gnomAD v3:
X-32287681-T-C
gnomAD v4:
X-32287681-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32287681T>C , CM000685.2:g.32287681T>C | GRCh38 |
| NC_000023.10:g.32305798T>C , CM000685.1:g.32305798T>C | GRCh37 |
| NC_000023.9:g.32215719T>C | NCBI36 |
| NG_012232.1:g.1056929A>G , LRG_199:g.1056929A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.984A>G | ENSP00000350765.3:p.Gln328= | |
| ENST00000357033.9:c.6138A>G MANE Select | ENSP00000354923.3:p.Gln2046= | |
| ENST00000619831.5:c.2106A>G | ENSP00000479270.2:p.Gln702= | |
| ENST00000357033.8:c.6138A>G | ENSP00000354923.3:p.Gln2046= | |
| ENST00000378677.6:c.6126A>G | ENSP00000367948.2:p.Gln2042= | |
| ENST00000488902.5:n.336-70618A>G | ||
| ENST00000619831.4:c.6126A>G | ENSP00000479270.1:p.Gln2042= | |
| ENST00000620040.4:c.6138A>G | ENSP00000478150.1:p.Gln2046= | |
| NM_000109.3:c.6114A>G | NP_000100.2:p.Gln2038= | |
| NM_004006.2:c.6138A>G , LRG_199t1:c.6138A>G | NP_003997.1:p.Gln2046= | |
| NM_004009.3:c.6126A>G | NP_004000.1:p.Gln2042= | |
| NM_004010.3:c.5769A>G | NP_004001.1:p.Gln1923= | |
| NM_004011.3:c.2115A>G | NP_004002.2:p.Gln705= | |
| NM_004012.3:c.2106A>G | NP_004003.1:p.Gln702= | |
| XM_006724468.2:c.6138A>G | XP_006724531.1:p.Gln2046= | |
| XM_006724469.2:c.6114A>G | XP_006724532.1:p.Gln2038= | |
| XM_006724470.2:c.6138A>G | XP_006724533.1:p.Gln2046= | |
| XM_006724471.2:c.6138A>G | XP_006724534.1:p.Gln2046= | |
| XM_006724472.2:c.6009A>G | XP_006724535.1:p.Gln2003= | |
| XM_006724473.2:c.6000A>G | XP_006724536.1:p.Gln2000= | |
| XM_006724474.2:c.6138A>G | XP_006724537.1:p.Gln2046= | |
| XM_006724475.2:c.6138A>G | XP_006724538.1:p.Gln2046= | |
| XM_011545467.1:c.6015A>G | XP_011543769.1:p.Gln2005= | |
| XM_011545468.1:c.6138A>G | XP_011543770.1:p.Gln2046= | |
| XM_006724469.3:c.6114A>G | XP_006724532.1:p.Gln2038= | |
| XM_006724470.3:c.6138A>G | XP_006724533.1:p.Gln2046= | |
| XM_006724474.3:c.6138A>G | XP_006724537.1:p.Gln2046= | |
| XM_011545468.2:c.6138A>G | XP_011543770.1:p.Gln2046= | |
| XM_017029328.1:c.6138A>G | XP_016884817.1:p.Gln2046= | |
| XM_017029329.1:c.6138A>G | XP_016884818.1:p.Gln2046= | |
| XM_017029330.2:c.6138A>G | XP_016884819.1:p.Gln2046= | |
| XM_017029331.1:c.312A>G | XP_016884820.1:p.Gln104= | |
| NM_000109.4:c.6114A>G | NP_000100.3:p.Gln2038= | |
| NM_004006.3:c.6138A>G MANE Select | NP_003997.2:p.Gln2046= | |
| NM_004011.4:c.2115A>G | NP_004002.3:p.Gln705= | |
| NM_004012.4:c.2106A>G | NP_004003.2:p.Gln702= |