Linked Data
ClinVar Variation Id:
518509
dbSNP Id:
rs201516290
ExAC:
X:32380960 A / G
gnomAD v2:
X-32380960-A-G
gnomAD v3:
X-32362843-A-G
gnomAD v4:
X-32362843-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32362843A>G , CM000685.2:g.32362843A>G | GRCh38 |
| NC_000023.10:g.32380960A>G , CM000685.1:g.32380960A>G | GRCh37 |
| NC_000023.9:g.32290881A>G | NCBI36 |
| NG_012232.1:g.981767T>C , LRG_199:g.981767T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.116T>C | ENSP00000350765.3:p.Ile39Thr | |
| ENST00000357033.9:c.5270T>C MANE Select | ENSP00000354923.3:p.Ile1757Thr | |
| ENST00000619831.5:c.1238T>C | ENSP00000479270.2:p.Ile413Thr | |
| ENST00000357033.8:c.5270T>C | ENSP00000354923.3:p.Ile1757Thr | |
| ENST00000378677.6:c.5258T>C | ENSP00000367948.2:p.Ile1753Thr | |
| ENST00000488902.5:n.336-145780T>C | ||
| ENST00000619831.4:c.5258T>C | ENSP00000479270.1:p.Ile1753Thr | |
| ENST00000620040.4:c.5270T>C | ENSP00000478150.1:p.Ile1757Thr | |
| NM_000109.3:c.5246T>C | NP_000100.2:p.Ile1749Thr | |
| NM_004006.2:c.5270T>C , LRG_199t1:c.5270T>C | NP_003997.1:p.Ile1757Thr | |
| NM_004009.3:c.5258T>C | NP_004000.1:p.Ile1753Thr | |
| NM_004010.3:c.4901T>C | NP_004001.1:p.Ile1634Thr | |
| NM_004011.3:c.1247T>C | NP_004002.2:p.Ile416Thr | |
| NM_004012.3:c.1238T>C | NP_004003.1:p.Ile413Thr | |
| XM_006724468.2:c.5270T>C | XP_006724531.1:p.Ile1757Thr | |
| XM_006724469.2:c.5246T>C | XP_006724532.1:p.Ile1749Thr | |
| XM_006724470.2:c.5270T>C | XP_006724533.1:p.Ile1757Thr | |
| XM_006724471.2:c.5270T>C | XP_006724534.1:p.Ile1757Thr | |
| XM_006724472.2:c.5141T>C | XP_006724535.1:p.Ile1714Thr | |
| XM_006724473.2:c.5270T>C | XP_006724536.1:p.Ile1757Thr | |
| XM_006724474.2:c.5270T>C | XP_006724537.1:p.Ile1757Thr | |
| XM_006724475.2:c.5270T>C | XP_006724538.1:p.Ile1757Thr | |
| XM_011545467.1:c.5270T>C | XP_011543769.1:p.Ile1757Thr | |
| XM_011545468.1:c.5270T>C | XP_011543770.1:p.Ile1757Thr | |
| XM_011545469.1:c.5270T>C | XP_011543771.1:p.Ile1757Thr | |
| XM_006724469.3:c.5246T>C | XP_006724532.1:p.Ile1749Thr | |
| XM_006724470.3:c.5270T>C | XP_006724533.1:p.Ile1757Thr | |
| XM_006724474.3:c.5270T>C | XP_006724537.1:p.Ile1757Thr | |
| XM_011545468.2:c.5270T>C | XP_011543770.1:p.Ile1757Thr | |
| XM_017029328.1:c.5270T>C | XP_016884817.1:p.Ile1757Thr | |
| XM_017029329.1:c.5270T>C | XP_016884818.1:p.Ile1757Thr | |
| XM_017029330.2:c.5270T>C | XP_016884819.1:p.Ile1757Thr | |
| NM_000109.4:c.5246T>C | NP_000100.3:p.Ile1749Thr | |
| NM_004006.3:c.5270T>C MANE Select | NP_003997.2:p.Ile1757Thr | |
| NM_004011.4:c.1247T>C | NP_004002.3:p.Ile416Thr | |
| NM_004012.4:c.1238T>C | NP_004003.2:p.Ile413Thr |