Linked Data
ClinVar Variation Id:
94642
dbSNP Id:
rs61733574
ExAC:
X:32383284 C / A
gnomAD v2:
X-32383284-C-A
gnomAD v3:
X-32365167-C-A
gnomAD v4:
X-32365167-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32365167C>A , CM000685.2:g.32365167C>A | GRCh38 |
| NC_000023.10:g.32383284C>A , CM000685.1:g.32383284C>A | GRCh37 |
| NC_000023.9:g.32293205C>A | NCBI36 |
| NG_012232.1:g.979443G>T , LRG_199:g.979443G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.4878G>T MANE Select | ENSP00000354923.3:p.Val1626= | |
| ENST00000619831.5:c.846G>T | ENSP00000479270.2:p.Val282= | |
| ENST00000357033.8:c.4878G>T | ENSP00000354923.3:p.Val1626= | |
| ENST00000378677.6:c.4866G>T | ENSP00000367948.2:p.Val1622= | |
| ENST00000420596.5:c.126G>T | ENSP00000399897.1:p.Val42= | |
| ENST00000448370.5:c.94-457G>T | ENSP00000388559.1:n.94-457G>T | |
| ENST00000488902.5:n.336-148104G>T | ||
| ENST00000619831.4:c.4866G>T | ENSP00000479270.1:p.Val1622= | |
| ENST00000620040.4:c.4878G>T | ENSP00000478150.1:p.Val1626= | |
| NM_000109.3:c.4854G>T | NP_000100.2:p.Val1618= | |
| NM_004006.2:c.4878G>T , LRG_199t1:c.4878G>T | NP_003997.1:p.Val1626= | |
| NM_004009.3:c.4866G>T | NP_004000.1:p.Val1622= | |
| NM_004010.3:c.4509G>T | NP_004001.1:p.Val1503= | |
| NM_004011.3:c.855G>T | NP_004002.2:p.Val285= | |
| NM_004012.3:c.846G>T | NP_004003.1:p.Val282= | |
| XM_006724468.2:c.4878G>T | XP_006724531.1:p.Val1626= | |
| XM_006724469.2:c.4854G>T | XP_006724532.1:p.Val1618= | |
| XM_006724470.2:c.4878G>T | XP_006724533.1:p.Val1626= | |
| XM_006724471.2:c.4878G>T | XP_006724534.1:p.Val1626= | |
| XM_006724472.2:c.4749G>T | XP_006724535.1:p.Val1583= | |
| XM_006724473.2:c.4878G>T | XP_006724536.1:p.Val1626= | |
| XM_006724474.2:c.4878G>T | XP_006724537.1:p.Val1626= | |
| XM_006724475.2:c.4878G>T | XP_006724538.1:p.Val1626= | |
| XM_011545467.1:c.4878G>T | XP_011543769.1:p.Val1626= | |
| XM_011545468.1:c.4878G>T | XP_011543770.1:p.Val1626= | |
| XM_011545469.1:c.4878G>T | XP_011543771.1:p.Val1626= | |
| XM_006724469.3:c.4854G>T | XP_006724532.1:p.Val1618= | |
| XM_006724470.3:c.4878G>T | XP_006724533.1:p.Val1626= | |
| XM_006724474.3:c.4878G>T | XP_006724537.1:p.Val1626= | |
| XM_011545468.2:c.4878G>T | XP_011543770.1:p.Val1626= | |
| XM_017029328.1:c.4878G>T | XP_016884817.1:p.Val1626= | |
| XM_017029329.1:c.4878G>T | XP_016884818.1:p.Val1626= | |
| XM_017029330.2:c.4878G>T | XP_016884819.1:p.Val1626= | |
| NM_000109.4:c.4854G>T | NP_000100.3:p.Val1618= | |
| NM_004006.3:c.4878G>T MANE Select | NP_003997.2:p.Val1626= | |
| NM_004011.4:c.855G>T | NP_004002.3:p.Val285= | |
| NM_004012.4:c.846G>T | NP_004003.2:p.Val282= |