Linked Data
ClinVar Variation Id:
1145211
ClinVar RCV Id:
RCV001483986
dbSNP Id:
rs2142989956
MyVariant Identifiers:
chr17:g.7128004C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224685C>T , CM000679.2:g.7224685C>T | GRCh38 |
| NC_000017.10:g.7128004C>T , CM000679.1:g.7128004C>T | GRCh37 |
| NC_000017.9:g.7068728C>T | NCBI36 |
| NG_007975.1:g.9852C>T | |
| NG_008391.2:g.366G>A | |
| NG_033038.1:g.14860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1722C>T MANE Select | ENSP00000349297.5:p.Asp574= | |
| ENST00000322910.9:c.*1677C>T | ENSP00000325395.5:n.*1677C>T | |
| ENST00000350303.9:c.1656C>T | ENSP00000344152.5:p.Asp552= | |
| ENST00000356839.9:c.1722C>T | ENSP00000349297.5:p.Asp574= | |
| ENST00000542255.6:c.537-30C>T | ||
| ENST00000543245.6:c.1791C>T | ENSP00000438689.2:p.Asp597= | |
| ENST00000578033.1:n.53C>T | ||
| ENST00000578319.5:n.303C>T | ||
| ENST00000578711.1:n.1181C>T | ||
| ENST00000578809.5:n.294C>T | ||
| ENST00000579425.5:n.838C>T | ||
| ENST00000579546.1:c.457C>T | ||
| ENST00000583074.5:n.300-30C>T | ||
| ENST00000583848.5:c.88C>T | ENSP00000466487.1:p.Pro30Ser | |
| ENST00000583850.5:n.493C>T | ||
| ENST00000583858.5:c.653C>T | ||
| ENST00000585203.6:n.913C>T | ||
| NM_000018.3:c.1722C>T | NP_000009.1:p.Asp574= | |
| NM_001033859.2:c.1656C>T | NP_001029031.1:p.Asp552= | |
| NM_001270447.1:c.1791C>T | NP_001257376.1:p.Asp597= | |
| NM_001270448.1:c.1494C>T | NP_001257377.1:p.Asp498= | |
| XM_006721516.2:c.1679-30C>T | XP_006721579.2:n.1679-30C>T | |
| XM_011523829.1:c.1577-30C>T | XP_011522131.1:n.1577-30C>T | |
| XM_011523830.1:c.1620C>T | XP_011522132.1:p.Asp540= | |
| XR_934021.1:n.1825C>T | ||
| XR_934022.1:n.1731C>T | ||
| XR_934023.1:n.1688-30C>T | ||
| XM_006721516.3:c.1679-30C>T | XP_006721579.2:n.1679-30C>T | |
| XM_011523829.2:c.1577-30C>T | XP_011522131.1:n.1577-30C>T | |
| XM_011523830.2:c.1620C>T | XP_011522132.1:p.Asp540= | |
| XM_024450741.1:c.1710C>T | XP_024306509.1:p.Asp570= | |
| XR_934021.2:n.1777C>T | ||
| XR_934022.2:n.1683C>T | ||
| XR_934023.2:n.1640-30C>T | ||
| NM_000018.4:c.1722C>T MANE Select | NP_000009.1:p.Asp574= | |
| NM_001033859.3:c.1656C>T | NP_001029031.1:p.Asp552= | |
| NM_001270447.2:c.1791C>T | NP_001257376.1:p.Asp597= | |
| NM_001270448.2:c.1494C>T | NP_001257377.1:p.Asp498= |