Linked Data
ClinVar Variation Id:
2907024
ClinVar RCV Id:
RCV003601236
MyVariant Identifiers:
chr17:g.7128010T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224691T>C , CM000679.2:g.7224691T>C | GRCh38 |
| NC_000017.10:g.7128010T>C , CM000679.1:g.7128010T>C | GRCh37 |
| NC_000017.9:g.7068734T>C | NCBI36 |
| NG_007975.1:g.9858T>C | |
| NG_008391.2:g.360A>G | |
| NG_033038.1:g.14854A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1728T>C MANE Select | ENSP00000349297.5:p.Tyr576= | |
| ENST00000322910.9:c.*1683T>C | ENSP00000325395.5:n.*1683T>C | |
| ENST00000350303.9:c.1662T>C | ENSP00000344152.5:p.Tyr554= | |
| ENST00000356839.9:c.1728T>C | ENSP00000349297.5:p.Tyr576= | |
| ENST00000542255.6:c.537-24T>C | ||
| ENST00000543245.6:c.1797T>C | ENSP00000438689.2:p.Tyr599= | |
| ENST00000578033.1:n.59T>C | ||
| ENST00000578319.5:n.309T>C | ||
| ENST00000578711.1:n.1187T>C | ||
| ENST00000578809.5:n.300T>C | ||
| ENST00000579425.5:n.844T>C | ||
| ENST00000579546.1:c.463T>C | ||
| ENST00000583074.5:n.300-24T>C | ||
| ENST00000583848.5:c.94T>C | ENSP00000466487.1:p.Cys32Arg | |
| ENST00000583850.5:n.499T>C | ||
| ENST00000583858.5:c.659T>C | ||
| ENST00000585203.6:n.919T>C | ||
| NM_000018.3:c.1728T>C | NP_000009.1:p.Tyr576= | |
| NM_001033859.2:c.1662T>C | NP_001029031.1:p.Tyr554= | |
| NM_001270447.1:c.1797T>C | NP_001257376.1:p.Tyr599= | |
| NM_001270448.1:c.1500T>C | NP_001257377.1:p.Tyr500= | |
| XM_006721516.2:c.1679-24T>C | XP_006721579.2:n.1679-24T>C | |
| XM_011523829.1:c.1577-24T>C | XP_011522131.1:n.1577-24T>C | |
| XM_011523830.1:c.1626T>C | XP_011522132.1:p.Tyr542= | |
| XR_934021.1:n.1831T>C | ||
| XR_934022.1:n.1737T>C | ||
| XR_934023.1:n.1688-24T>C | ||
| XM_006721516.3:c.1679-24T>C | XP_006721579.2:n.1679-24T>C | |
| XM_011523829.2:c.1577-24T>C | XP_011522131.1:n.1577-24T>C | |
| XM_011523830.2:c.1626T>C | XP_011522132.1:p.Tyr542= | |
| XM_024450741.1:c.1716T>C | XP_024306509.1:p.Tyr572= | |
| XR_934021.2:n.1783T>C | ||
| XR_934022.2:n.1689T>C | ||
| XR_934023.2:n.1640-24T>C | ||
| NM_000018.4:c.1728T>C MANE Select | NP_000009.1:p.Tyr576= | |
| NM_001033859.3:c.1662T>C | NP_001029031.1:p.Tyr554= | |
| NM_001270447.2:c.1797T>C | NP_001257376.1:p.Tyr599= | |
| NM_001270448.2:c.1500T>C | NP_001257377.1:p.Tyr500= |