Linked Data
ClinVar Variation Id:
1127373
ClinVar RCV Id:
RCV001459762
dbSNP Id:
rs2142985989
MyVariant Identifiers:
chr17:g.7127331G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224012G>C , CM000679.2:g.7224012G>C | GRCh38 |
| NC_000017.10:g.7127331G>C , CM000679.1:g.7127331G>C | GRCh37 |
| NC_000017.9:g.7068055G>C | NCBI36 |
| NG_007975.1:g.9179G>C | |
| NG_008391.2:g.1039C>G | |
| NG_033038.1:g.15533C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1377G>C MANE Select | ENSP00000349297.5:p.Arg459= | |
| ENST00000322910.9:c.*1332G>C | ENSP00000325395.5:n.*1332G>C | |
| ENST00000350303.9:c.1311G>C | ENSP00000344152.5:p.Arg437= | |
| ENST00000356839.9:c.1377G>C | ENSP00000349297.5:p.Arg459= | |
| ENST00000542255.6:c.235G>C | ||
| ENST00000543245.6:c.1446G>C | ENSP00000438689.2:p.Arg482= | |
| ENST00000578711.1:n.508G>C | ||
| ENST00000579425.5:n.493G>C | ||
| ENST00000579546.1:c.214G>C | ||
| ENST00000579894.5:n.88G>C | ||
| ENST00000583074.5:n.96G>C | ||
| ENST00000583850.5:n.152G>C | ||
| ENST00000583858.5:c.406G>C | ||
| ENST00000585203.6:n.568G>C | ||
| NM_000018.3:c.1377G>C | NP_000009.1:p.Arg459= | |
| NM_001033859.2:c.1311G>C | NP_001029031.1:p.Arg437= | |
| NM_001270447.1:c.1446G>C | NP_001257376.1:p.Arg482= | |
| NM_001270448.1:c.1149G>C | NP_001257377.1:p.Arg383= | |
| XM_006721516.2:c.1377G>C | XP_006721579.2:p.Arg459= | |
| XM_011523829.1:c.1377G>C | XP_011522131.1:p.Arg459= | |
| XM_011523830.1:c.1377G>C | XP_011522132.1:p.Arg459= | |
| XR_934021.1:n.1484G>C | ||
| XR_934022.1:n.1484G>C | ||
| XR_934023.1:n.1484G>C | ||
| XM_006721516.3:c.1377G>C | XP_006721579.2:p.Arg459= | |
| XM_011523829.2:c.1377G>C | XP_011522131.1:p.Arg459= | |
| XM_011523830.2:c.1377G>C | XP_011522132.1:p.Arg459= | |
| XM_024450741.1:c.1377G>C | XP_024306509.1:p.Arg459= | |
| XR_934021.2:n.1436G>C | ||
| XR_934022.2:n.1436G>C | ||
| XR_934023.2:n.1436G>C | ||
| NM_000018.4:c.1377G>C MANE Select | NP_000009.1:p.Arg459= | |
| NM_001033859.3:c.1311G>C | NP_001029031.1:p.Arg437= | |
| NM_001270447.2:c.1446G>C | NP_001257376.1:p.Arg482= | |
| NM_001270448.2:c.1149G>C | NP_001257377.1:p.Arg383= |