Linked Data
ClinVar Variation Id:
1648202
ClinVar RCV Id:
RCV002141069
dbSNP Id:
rs2142989897
gnomAD v3:
17-7224679-C-T
gnomAD v4:
17-7224679-C-T
MyVariant Identifiers:
chr17:g.7127998C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224679C>T , CM000679.2:g.7224679C>T | GRCh38 |
| NC_000017.10:g.7127998C>T , CM000679.1:g.7127998C>T | GRCh37 |
| NC_000017.9:g.7068722C>T | NCBI36 |
| NG_007975.1:g.9846C>T | |
| NG_008391.2:g.372G>A | |
| NG_033038.1:g.14866G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1716C>T MANE Select | ENSP00000349297.5:p.Ala572= | |
| ENST00000322910.9:c.*1671C>T | ENSP00000325395.5:n.*1671C>T | |
| ENST00000350303.9:c.1650C>T | ENSP00000344152.5:p.Ala550= | |
| ENST00000356839.9:c.1716C>T | ENSP00000349297.5:p.Ala572= | |
| ENST00000542255.6:c.537-36C>T | ||
| ENST00000543245.6:c.1785C>T | ENSP00000438689.2:p.Ala595= | |
| ENST00000578033.1:n.47C>T | ||
| ENST00000578319.5:n.297C>T | ||
| ENST00000578711.1:n.1175C>T | ||
| ENST00000578809.5:n.288C>T | ||
| ENST00000579425.5:n.832C>T | ||
| ENST00000579546.1:c.451C>T | ||
| ENST00000583074.5:n.300-36C>T | ||
| ENST00000583848.5:c.82C>T | ENSP00000466487.1:p.His28Tyr | |
| ENST00000583850.5:n.487C>T | ||
| ENST00000583858.5:c.647C>T | ||
| ENST00000585203.6:n.907C>T | ||
| NM_000018.3:c.1716C>T | NP_000009.1:p.Ala572= | |
| NM_001033859.2:c.1650C>T | NP_001029031.1:p.Ala550= | |
| NM_001270447.1:c.1785C>T | NP_001257376.1:p.Ala595= | |
| NM_001270448.1:c.1488C>T | NP_001257377.1:p.Ala496= | |
| XM_006721516.2:c.1679-36C>T | XP_006721579.2:n.1679-36C>T | |
| XM_011523829.1:c.1577-36C>T | XP_011522131.1:n.1577-36C>T | |
| XM_011523830.1:c.1614C>T | XP_011522132.1:p.Ala538= | |
| XR_934021.1:n.1819C>T | ||
| XR_934022.1:n.1725C>T | ||
| XR_934023.1:n.1688-36C>T | ||
| XM_006721516.3:c.1679-36C>T | XP_006721579.2:n.1679-36C>T | |
| XM_011523829.2:c.1577-36C>T | XP_011522131.1:n.1577-36C>T | |
| XM_011523830.2:c.1614C>T | XP_011522132.1:p.Ala538= | |
| XM_024450741.1:c.1704C>T | XP_024306509.1:p.Ala568= | |
| XR_934021.2:n.1771C>T | ||
| XR_934022.2:n.1677C>T | ||
| XR_934023.2:n.1640-36C>T | ||
| NM_000018.4:c.1716C>T MANE Select | NP_000009.1:p.Ala572= | |
| NM_001033859.3:c.1650C>T | NP_001029031.1:p.Ala550= | |
| NM_001270447.2:c.1785C>T | NP_001257376.1:p.Ala595= | |
| NM_001270448.2:c.1488C>T | NP_001257377.1:p.Ala496= |