Linked Data
ClinVar Variation Id:
94695
dbSNP Id:
rs398124006
gnomAD v2:
X-32305741-A-G
gnomAD v4:
X-32287624-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32287624A>G , CM000685.2:g.32287624A>G | GRCh38 |
| NC_000023.10:g.32305741A>G , CM000685.1:g.32305741A>G | GRCh37 |
| NC_000023.9:g.32215662A>G | NCBI36 |
| NG_012232.1:g.1056986T>C , LRG_199:g.1056986T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.1041T>C | ENSP00000350765.3:p.Ser347= | |
| ENST00000357033.9:c.6195T>C MANE Select | ENSP00000354923.3:p.Ser2065= | |
| ENST00000619831.5:c.2163T>C | ENSP00000479270.2:p.Ser721= | |
| ENST00000357033.8:c.6195T>C | ENSP00000354923.3:p.Ser2065= | |
| ENST00000378677.6:c.6183T>C | ENSP00000367948.2:p.Ser2061= | |
| ENST00000488902.5:n.336-70561T>C | ||
| ENST00000619831.4:c.6183T>C | ENSP00000479270.1:p.Ser2061= | |
| ENST00000620040.4:c.6195T>C | ENSP00000478150.1:p.Ser2065= | |
| NM_000109.3:c.6171T>C | NP_000100.2:p.Ser2057= | |
| NM_004006.2:c.6195T>C , LRG_199t1:c.6195T>C | NP_003997.1:p.Ser2065= | |
| NM_004009.3:c.6183T>C | NP_004000.1:p.Ser2061= | |
| NM_004010.3:c.5826T>C | NP_004001.1:p.Ser1942= | |
| NM_004011.3:c.2172T>C | NP_004002.2:p.Ser724= | |
| NM_004012.3:c.2163T>C | NP_004003.1:p.Ser721= | |
| XM_006724468.2:c.6195T>C | XP_006724531.1:p.Ser2065= | |
| XM_006724469.2:c.6171T>C | XP_006724532.1:p.Ser2057= | |
| XM_006724470.2:c.6195T>C | XP_006724533.1:p.Ser2065= | |
| XM_006724471.2:c.6195T>C | XP_006724534.1:p.Ser2065= | |
| XM_006724472.2:c.6066T>C | XP_006724535.1:p.Ser2022= | |
| XM_006724473.2:c.6057T>C | XP_006724536.1:p.Ser2019= | |
| XM_006724474.2:c.6195T>C | XP_006724537.1:p.Ser2065= | |
| XM_006724475.2:c.6195T>C | XP_006724538.1:p.Ser2065= | |
| XM_011545467.1:c.6072T>C | XP_011543769.1:p.Ser2024= | |
| XM_011545468.1:c.6195T>C | XP_011543770.1:p.Ser2065= | |
| XM_006724469.3:c.6171T>C | XP_006724532.1:p.Ser2057= | |
| XM_006724470.3:c.6195T>C | XP_006724533.1:p.Ser2065= | |
| XM_006724474.3:c.6195T>C | XP_006724537.1:p.Ser2065= | |
| XM_011545468.2:c.6195T>C | XP_011543770.1:p.Ser2065= | |
| XM_017029328.1:c.6195T>C | XP_016884817.1:p.Ser2065= | |
| XM_017029329.1:c.6195T>C | XP_016884818.1:p.Ser2065= | |
| XM_017029330.2:c.6195T>C | XP_016884819.1:p.Ser2065= | |
| XM_017029331.1:c.369T>C | XP_016884820.1:p.Ser123= | |
| NM_000109.4:c.6171T>C | NP_000100.3:p.Ser2057= | |
| NM_004006.3:c.6195T>C MANE Select | NP_003997.2:p.Ser2065= | |
| NM_004011.4:c.2172T>C | NP_004002.3:p.Ser724= | |
| NM_004012.4:c.2163T>C | NP_004003.2:p.Ser721= |