Linked Data
ClinVar Variation Id:
1662505
ClinVar RCV Id:
RCV002179171
dbSNP Id:
rs1597533902
MyVariant Identifiers:
chr17:g.7126980G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223661G>C , CM000679.2:g.7223661G>C | GRCh38 |
| NC_000017.10:g.7126980G>C , CM000679.1:g.7126980G>C | GRCh37 |
| NC_000017.9:g.7067704G>C | NCBI36 |
| NG_007975.1:g.8828G>C | |
| NG_008391.2:g.1390C>G | |
| NG_033038.1:g.15884C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1200G>C MANE Select | ENSP00000349297.5:p.Val400= | |
| ENST00000322910.9:c.*1155G>C | ENSP00000325395.5:n.*1155G>C | |
| ENST00000350303.9:c.1134G>C | ENSP00000344152.5:p.Val378= | |
| ENST00000356839.9:c.1200G>C | ENSP00000349297.5:p.Val400= | |
| ENST00000542255.6:c.58G>C | ||
| ENST00000543245.6:c.1269G>C | ENSP00000438689.2:p.Val423= | |
| ENST00000578579.2:n.371G>C | ||
| ENST00000578711.1:n.157G>C | ||
| ENST00000578824.5:n.616G>C | ||
| ENST00000579425.5:n.224G>C | ||
| ENST00000579546.1:c.37G>C | ||
| ENST00000583858.5:c.229G>C | ||
| ENST00000585203.6:n.408G>C | ||
| NM_000018.3:c.1200G>C | NP_000009.1:p.Val400= | |
| NM_001033859.2:c.1134G>C | NP_001029031.1:p.Val378= | |
| NM_001270447.1:c.1269G>C | NP_001257376.1:p.Val423= | |
| NM_001270448.1:c.972G>C | NP_001257377.1:p.Val324= | |
| XM_006721516.2:c.1200G>C | XP_006721579.2:p.Val400= | |
| XM_011523829.1:c.1200G>C | XP_011522131.1:p.Val400= | |
| XM_011523830.1:c.1200G>C | XP_011522132.1:p.Val400= | |
| XR_934021.1:n.1307G>C | ||
| XR_934022.1:n.1307G>C | ||
| XR_934023.1:n.1307G>C | ||
| XM_006721516.3:c.1200G>C | XP_006721579.2:p.Val400= | |
| XM_011523829.2:c.1200G>C | XP_011522131.1:p.Val400= | |
| XM_011523830.2:c.1200G>C | XP_011522132.1:p.Val400= | |
| XM_024450741.1:c.1200G>C | XP_024306509.1:p.Val400= | |
| XR_934021.2:n.1259G>C | ||
| XR_934022.2:n.1259G>C | ||
| XR_934023.2:n.1259G>C | ||
| NM_000018.4:c.1200G>C MANE Select | NP_000009.1:p.Val400= | |
| NM_001033859.3:c.1134G>C | NP_001029031.1:p.Val378= | |
| NM_001270447.2:c.1269G>C | NP_001257376.1:p.Val423= | |
| NM_001270448.2:c.972G>C | NP_001257377.1:p.Val324= |