Linked Data
ClinVar Variation Id:
2091094
ClinVar RCV Id:
RCV003013435
MyVariant Identifiers:
chr17:g.7127989A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224670A>C , CM000679.2:g.7224670A>C | GRCh38 |
| NC_000017.10:g.7127989A>C , CM000679.1:g.7127989A>C | GRCh37 |
| NC_000017.9:g.7068713A>C | NCBI36 |
| NG_007975.1:g.9837A>C | |
| NG_008391.2:g.381T>G | |
| NG_033038.1:g.14875T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1707A>C MANE Select | ENSP00000349297.5:p.Ala569= | |
| ENST00000322910.9:c.*1662A>C | ENSP00000325395.5:n.*1662A>C | |
| ENST00000350303.9:c.1641A>C | ENSP00000344152.5:p.Ala547= | |
| ENST00000356839.9:c.1707A>C | ENSP00000349297.5:p.Ala569= | |
| ENST00000542255.6:c.537-45A>C | ||
| ENST00000543245.6:c.1776A>C | ENSP00000438689.2:p.Ala592= | |
| ENST00000578033.1:n.38A>C | ||
| ENST00000578319.5:n.288A>C | ||
| ENST00000578711.1:n.1166A>C | ||
| ENST00000578809.5:n.279A>C | ||
| ENST00000579425.5:n.823A>C | ||
| ENST00000579546.1:c.442A>C | ||
| ENST00000583074.5:n.300-45A>C | ||
| ENST00000583848.5:c.73A>C | ENSP00000466487.1:p.Arg25= | |
| ENST00000583850.5:n.478A>C | ||
| ENST00000583858.5:c.638A>C | ||
| ENST00000585203.6:n.898A>C | ||
| NM_000018.3:c.1707A>C | NP_000009.1:p.Ala569= | |
| NM_001033859.2:c.1641A>C | NP_001029031.1:p.Ala547= | |
| NM_001270447.1:c.1776A>C | NP_001257376.1:p.Ala592= | |
| NM_001270448.1:c.1479A>C | NP_001257377.1:p.Ala493= | |
| XM_006721516.2:c.1679-45A>C | XP_006721579.2:n.1679-45A>C | |
| XM_011523829.1:c.1577-45A>C | XP_011522131.1:n.1577-45A>C | |
| XM_011523830.1:c.1605A>C | XP_011522132.1:p.Ala535= | |
| XR_934021.1:n.1810A>C | ||
| XR_934022.1:n.1716A>C | ||
| XR_934023.1:n.1688-45A>C | ||
| XM_006721516.3:c.1679-45A>C | XP_006721579.2:n.1679-45A>C | |
| XM_011523829.2:c.1577-45A>C | XP_011522131.1:n.1577-45A>C | |
| XM_011523830.2:c.1605A>C | XP_011522132.1:p.Ala535= | |
| XM_024450741.1:c.1695A>C | XP_024306509.1:p.Ala565= | |
| XR_934021.2:n.1762A>C | ||
| XR_934022.2:n.1668A>C | ||
| XR_934023.2:n.1640-45A>C | ||
| NM_000018.4:c.1707A>C MANE Select | NP_000009.1:p.Ala569= | |
| NM_001033859.3:c.1641A>C | NP_001029031.1:p.Ala547= | |
| NM_001270447.2:c.1776A>C | NP_001257376.1:p.Ala592= | |
| NM_001270448.2:c.1479A>C | NP_001257377.1:p.Ala493= |