Linked Data
ClinVar Variation Id:
662549
dbSNP Id:
rs767872954
ExAC:
X:32305742 C / A
gnomAD v2:
X-32305742-C-A
gnomAD v4:
X-32287625-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32287625C>A , CM000685.2:g.32287625C>A | GRCh38 |
| NC_000023.10:g.32305742C>A , CM000685.1:g.32305742C>A | GRCh37 |
| NC_000023.9:g.32215663C>A | NCBI36 |
| NG_012232.1:g.1056985G>T , LRG_199:g.1056985G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.1040G>T | ENSP00000350765.3:p.Ser347Ile | |
| ENST00000357033.9:c.6194G>T MANE Select | ENSP00000354923.3:p.Ser2065Ile | |
| ENST00000619831.5:c.2162G>T | ENSP00000479270.2:p.Ser721Ile | |
| ENST00000357033.8:c.6194G>T | ENSP00000354923.3:p.Ser2065Ile | |
| ENST00000378677.6:c.6182G>T | ENSP00000367948.2:p.Ser2061Ile | |
| ENST00000488902.5:n.336-70562G>T | ||
| ENST00000619831.4:c.6182G>T | ENSP00000479270.1:p.Ser2061Ile | |
| ENST00000620040.4:c.6194G>T | ENSP00000478150.1:p.Ser2065Ile | |
| NM_000109.3:c.6170G>T | NP_000100.2:p.Ser2057Ile | |
| NM_004006.2:c.6194G>T , LRG_199t1:c.6194G>T | NP_003997.1:p.Ser2065Ile | |
| NM_004009.3:c.6182G>T | NP_004000.1:p.Ser2061Ile | |
| NM_004010.3:c.5825G>T | NP_004001.1:p.Ser1942Ile | |
| NM_004011.3:c.2171G>T | NP_004002.2:p.Ser724Ile | |
| NM_004012.3:c.2162G>T | NP_004003.1:p.Ser721Ile | |
| XM_006724468.2:c.6194G>T | XP_006724531.1:p.Ser2065Ile | |
| XM_006724469.2:c.6170G>T | XP_006724532.1:p.Ser2057Ile | |
| XM_006724470.2:c.6194G>T | XP_006724533.1:p.Ser2065Ile | |
| XM_006724471.2:c.6194G>T | XP_006724534.1:p.Ser2065Ile | |
| XM_006724472.2:c.6065G>T | XP_006724535.1:p.Ser2022Ile | |
| XM_006724473.2:c.6056G>T | XP_006724536.1:p.Ser2019Ile | |
| XM_006724474.2:c.6194G>T | XP_006724537.1:p.Ser2065Ile | |
| XM_006724475.2:c.6194G>T | XP_006724538.1:p.Ser2065Ile | |
| XM_011545467.1:c.6071G>T | XP_011543769.1:p.Ser2024Ile | |
| XM_011545468.1:c.6194G>T | XP_011543770.1:p.Ser2065Ile | |
| XM_006724469.3:c.6170G>T | XP_006724532.1:p.Ser2057Ile | |
| XM_006724470.3:c.6194G>T | XP_006724533.1:p.Ser2065Ile | |
| XM_006724474.3:c.6194G>T | XP_006724537.1:p.Ser2065Ile | |
| XM_011545468.2:c.6194G>T | XP_011543770.1:p.Ser2065Ile | |
| XM_017029328.1:c.6194G>T | XP_016884817.1:p.Ser2065Ile | |
| XM_017029329.1:c.6194G>T | XP_016884818.1:p.Ser2065Ile | |
| XM_017029330.2:c.6194G>T | XP_016884819.1:p.Ser2065Ile | |
| XM_017029331.1:c.368G>T | XP_016884820.1:p.Ser123Ile | |
| NM_000109.4:c.6170G>T | NP_000100.3:p.Ser2057Ile | |
| NM_004006.3:c.6194G>T MANE Select | NP_003997.2:p.Ser2065Ile | |
| NM_004011.4:c.2171G>T | NP_004002.3:p.Ser724Ile | |
| NM_004012.4:c.2162G>T | NP_004003.2:p.Ser721Ile |