Linked Data
ClinVar Variation Id:
555512
ClinVar RCV Id:
RCV000671348
dbSNP Id:
rs375203448
ExAC:
17:7128079 C / G
gnomAD v2:
17-7128079-C-G
gnomAD v3:
17-7224760-C-G
gnomAD v4:
17-7224760-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224760C>G , CM000679.2:g.7224760C>G | GRCh38 |
| NC_000017.10:g.7128079C>G , CM000679.1:g.7128079C>G | GRCh37 |
| NC_000017.9:g.7068803C>G | NCBI36 |
| NG_007975.1:g.9927C>G | |
| NG_008391.2:g.291G>C | |
| NG_033038.1:g.14785G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1751+46C>G MANE Select | ENSP00000349297.5:n.1751+46C>G | |
| ENST00000322910.9:c.*1706+46C>G | ENSP00000325395.5:n.*1706+46C>G | |
| ENST00000350303.9:c.1685+46C>G | ENSP00000344152.5:n.1685+46C>G | |
| ENST00000356839.9:c.1751+46C>G | ENSP00000349297.5:n.1751+46C>G | |
| ENST00000542255.6:c.582C>G | ||
| ENST00000543245.6:c.1820+46C>G | ENSP00000438689.2:n.1820+46C>G | |
| ENST00000578033.1:n.128C>G | ||
| ENST00000578319.5:n.332+46C>G | ||
| ENST00000578711.1:n.1256C>G | ||
| ENST00000578809.5:n.323+46C>G | ||
| ENST00000579425.5:n.867+46C>G | ||
| ENST00000579546.1:c.486+46C>G | ||
| ENST00000583074.5:n.345C>G | ||
| ENST00000583848.5:c.117+46C>G | ENSP00000466487.1:n.117+46C>G | |
| ENST00000583850.5:n.522+46C>G | ||
| ENST00000583858.5:c.682+46C>G | ||
| ENST00000585203.6:n.942+46C>G | ||
| NM_000018.3:c.1751+46C>G | NP_000009.1:n.1751+46C>G | |
| NM_001033859.2:c.1685+46C>G | NP_001029031.1:n.1685+46C>G | |
| NM_001270447.1:c.1820+46C>G | NP_001257376.1:n.1820+46C>G | |
| NM_001270448.1:c.1523+46C>G | NP_001257377.1:n.1523+46C>G | |
| XM_006721516.2:c.1724C>G | XP_006721579.2:p.Pro575Arg | |
| XM_011523829.1:c.1622C>G | XP_011522131.1:p.Pro541Arg | |
| XM_011523830.1:c.1649+46C>G | XP_011522132.1:n.1649+46C>G | |
| XR_934021.1:n.1854+46C>G | ||
| XR_934022.1:n.1760+46C>G | ||
| XR_934023.1:n.1733C>G | ||
| XM_006721516.3:c.1724C>G | XP_006721579.2:p.Pro575Arg | |
| XM_011523829.2:c.1622C>G | XP_011522131.1:p.Pro541Arg | |
| XM_011523830.2:c.1649+46C>G | XP_011522132.1:n.1649+46C>G | |
| XM_024450741.1:c.1739+46C>G | XP_024306509.1:n.1739+46C>G | |
| XR_934021.2:n.1806+46C>G | ||
| XR_934022.2:n.1712+46C>G | ||
| XR_934023.2:n.1685C>G | ||
| NM_000018.4:c.1751+46C>G MANE Select | NP_000009.1:n.1751+46C>G | |
| NM_001033859.3:c.1685+46C>G | NP_001029031.1:n.1685+46C>G | |
| NM_001270447.2:c.1820+46C>G | NP_001257376.1:n.1820+46C>G | |
| NM_001270448.2:c.1523+46C>G | NP_001257377.1:n.1523+46C>G |