Linked Data
ClinVar Variation Id:
2827919
ClinVar RCV Id:
RCV003601806
gnomAD v4:
17-7224009-C-T
MyVariant Identifiers:
chr17:g.7127328C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224009C>T , CM000679.2:g.7224009C>T | GRCh38 |
| NC_000017.10:g.7127328C>T , CM000679.1:g.7127328C>T | GRCh37 |
| NC_000017.9:g.7068052C>T | NCBI36 |
| NG_007975.1:g.9176C>T | |
| NG_008391.2:g.1042G>A | |
| NG_033038.1:g.15536G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.1374C>T MANE Select | ENSP00000349297.5:p.Phe458= | |
| ENST00000322910.9:c.*1329C>T | ENSP00000325395.5:n.*1329C>T | |
| ENST00000350303.9:c.1308C>T | ENSP00000344152.5:p.Phe436= | |
| ENST00000356839.9:c.1374C>T | ENSP00000349297.5:p.Phe458= | |
| ENST00000542255.6:c.232C>T | ||
| ENST00000543245.6:c.1443C>T | ENSP00000438689.2:p.Phe481= | |
| ENST00000578711.1:n.505C>T | ||
| ENST00000579425.5:n.490C>T | ||
| ENST00000579546.1:c.211C>T | ||
| ENST00000579894.5:n.85C>T | ||
| ENST00000583074.5:n.93C>T | ||
| ENST00000583850.5:n.149C>T | ||
| ENST00000583858.5:c.403C>T | ||
| ENST00000585203.6:n.565C>T | ||
| NM_000018.3:c.1374C>T | NP_000009.1:p.Phe458= | |
| NM_001033859.2:c.1308C>T | NP_001029031.1:p.Phe436= | |
| NM_001270447.1:c.1443C>T | NP_001257376.1:p.Phe481= | |
| NM_001270448.1:c.1146C>T | NP_001257377.1:p.Phe382= | |
| XM_006721516.2:c.1374C>T | XP_006721579.2:p.Phe458= | |
| XM_011523829.1:c.1374C>T | XP_011522131.1:p.Phe458= | |
| XM_011523830.1:c.1374C>T | XP_011522132.1:p.Phe458= | |
| XR_934021.1:n.1481C>T | ||
| XR_934022.1:n.1481C>T | ||
| XR_934023.1:n.1481C>T | ||
| XM_006721516.3:c.1374C>T | XP_006721579.2:p.Phe458= | |
| XM_011523829.2:c.1374C>T | XP_011522131.1:p.Phe458= | |
| XM_011523830.2:c.1374C>T | XP_011522132.1:p.Phe458= | |
| XM_024450741.1:c.1374C>T | XP_024306509.1:p.Phe458= | |
| XR_934021.2:n.1433C>T | ||
| XR_934022.2:n.1433C>T | ||
| XR_934023.2:n.1433C>T | ||
| NM_000018.4:c.1374C>T MANE Select | NP_000009.1:p.Phe458= | |
| NM_001033859.3:c.1308C>T | NP_001029031.1:p.Phe436= | |
| NM_001270447.2:c.1443C>T | NP_001257376.1:p.Phe481= | |
| NM_001270448.2:c.1146C>T | NP_001257377.1:p.Phe382= |