Linked Data
ClinVar Variation Id:
555782
ClinVar RCV Id:
RCV000671666
dbSNP Id:
rs368009800
ExAC:
17:7128105 T / C
gnomAD v2:
17-7128105-T-C
gnomAD v3:
17-7224786-T-C
gnomAD v4:
17-7224786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224786T>C , CM000679.2:g.7224786T>C | GRCh38 |
| NC_000017.10:g.7128105T>C , CM000679.1:g.7128105T>C | GRCh37 |
| NC_000017.9:g.7068829T>C | NCBI36 |
| NG_007975.1:g.9953T>C | |
| NG_008391.2:g.265A>G | |
| NG_033038.1:g.14759A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1752-23T>C MANE Select | ENSP00000349297.5:n.1752-23T>C | |
| ENST00000322910.9:c.*1707-23T>C | ENSP00000325395.5:n.*1707-23T>C | |
| ENST00000350303.9:c.1686-23T>C | ENSP00000344152.5:n.1686-23T>C | |
| ENST00000356839.9:c.1752-23T>C | ENSP00000349297.5:n.1752-23T>C | |
| ENST00000542255.6:c.608T>C | ||
| ENST00000543245.6:c.1821-23T>C | ENSP00000438689.2:n.1821-23T>C | |
| ENST00000578033.1:n.154T>C | ||
| ENST00000578319.5:n.333-23T>C | ||
| ENST00000578711.1:n.1282T>C | ||
| ENST00000578809.5:n.324-23T>C | ||
| ENST00000579425.5:n.868-23T>C | ||
| ENST00000579546.1:c.487-23T>C | ||
| ENST00000583074.5:n.371T>C | ||
| ENST00000583848.5:c.118-23T>C | ENSP00000466487.1:n.118-23T>C | |
| ENST00000583850.5:n.523-23T>C | ||
| ENST00000583858.5:c.683-23T>C | ||
| ENST00000585203.6:n.943-23T>C | ||
| NM_000018.3:c.1752-23T>C | NP_000009.1:n.1752-23T>C | |
| NM_001033859.2:c.1686-23T>C | NP_001029031.1:n.1686-23T>C | |
| NM_001270447.1:c.1821-23T>C | NP_001257376.1:n.1821-23T>C | |
| NM_001270448.1:c.1524-23T>C | NP_001257377.1:n.1524-23T>C | |
| XM_006721516.2:c.1750T>C | XP_006721579.2:p.Phe584Leu | |
| XM_011523829.1:c.1648T>C | XP_011522131.1:p.Phe550Leu | |
| XM_011523830.1:c.1650-23T>C | XP_011522132.1:n.1650-23T>C | |
| XR_934021.1:n.1855-23T>C | ||
| XR_934022.1:n.1761-23T>C | ||
| XR_934023.1:n.1759T>C | ||
| XM_006721516.3:c.1750T>C | XP_006721579.2:p.Phe584Leu | |
| XM_011523829.2:c.1648T>C | XP_011522131.1:p.Phe550Leu | |
| XM_011523830.2:c.1650-23T>C | XP_011522132.1:n.1650-23T>C | |
| XM_024450741.1:c.1740-23T>C | XP_024306509.1:n.1740-23T>C | |
| XR_934021.2:n.1807-23T>C | ||
| XR_934022.2:n.1713-23T>C | ||
| XR_934023.2:n.1711T>C | ||
| NM_000018.4:c.1752-23T>C MANE Select | NP_000009.1:n.1752-23T>C | |
| NM_001033859.3:c.1686-23T>C | NP_001029031.1:n.1686-23T>C | |
| NM_001270447.2:c.1821-23T>C | NP_001257376.1:n.1821-23T>C | |
| NM_001270448.2:c.1524-23T>C | NP_001257377.1:n.1524-23T>C |