Linked Data
ClinVar Variation Id:
2836957
ClinVar RCV Id:
RCV003602183
MyVariant Identifiers:
chr17:g.7128320C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225001C>T , CM000679.2:g.7225001C>T | GRCh38 |
| NC_000017.10:g.7128320C>T , CM000679.1:g.7128320C>T | GRCh37 |
| NC_000017.9:g.7069044C>T | NCBI36 |
| NG_007975.1:g.10168C>T | |
| NG_008391.2:g.50G>A | |
| NG_033038.1:g.14544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1872C>T MANE Select | ENSP00000349297.5:p.Asp624= | |
| ENST00000322910.9:c.*1827C>T | ENSP00000325395.5:n.*1827C>T | |
| ENST00000350303.9:c.1806C>T | ENSP00000344152.5:p.Asp602= | |
| ENST00000356839.9:c.1872C>T | ENSP00000349297.5:p.Asp624= | |
| ENST00000542255.6:c.751C>T | ||
| ENST00000543245.6:c.1941C>T | ENSP00000438689.2:p.Asp647= | |
| ENST00000578033.1:n.297C>T | ||
| ENST00000578319.5:n.453C>T | ||
| ENST00000578711.1:n.1497C>T | ||
| ENST00000578809.5:n.444C>T | ||
| ENST00000579425.5:n.988C>T | ||
| ENST00000583848.5:c.238C>T | ENSP00000466487.1:n.238C>T | |
| ENST00000583850.5:n.643C>T | ||
| ENST00000583858.5:c.803C>T | ||
| NM_000018.3:c.1872C>T | NP_000009.1:p.Asp624= | |
| NM_001033859.2:c.1806C>T | NP_001029031.1:p.Asp602= | |
| NM_001270447.1:c.1941C>T | NP_001257376.1:p.Asp647= | |
| NM_001270448.1:c.1644C>T | NP_001257377.1:p.Asp548= | |
| XM_006721516.2:c.1893C>T | XP_006721579.2:p.Asp631= | |
| XM_011523829.1:c.1791C>T | XP_011522131.1:p.Asp597= | |
| XM_011523830.1:c.1770C>T | XP_011522132.1:p.Asp590= | |
| XR_934021.1:n.1975C>T | ||
| XR_934022.1:n.1881C>T | ||
| XR_934023.1:n.1902C>T | ||
| XM_006721516.3:c.1893C>T | XP_006721579.2:p.Asp631= | |
| XM_011523829.2:c.1791C>T | XP_011522131.1:p.Asp597= | |
| XM_011523830.2:c.1770C>T | XP_011522132.1:p.Asp590= | |
| XM_024450741.1:c.1860C>T | XP_024306509.1:p.Asp620= | |
| XR_934021.2:n.1927C>T | ||
| XR_934022.2:n.1833C>T | ||
| XR_934023.2:n.1854C>T | ||
| NM_000018.4:c.1872C>T MANE Select | NP_000009.1:p.Asp624= | |
| NM_001033859.3:c.1806C>T | NP_001029031.1:p.Asp602= | |
| NM_001270447.2:c.1941C>T | NP_001257376.1:p.Asp647= | |
| NM_001270448.2:c.1644C>T | NP_001257377.1:p.Asp548= |