Linked Data
ClinVar Variation Id:
932826
ClinVar RCV Id:
RCV001200779
dbSNP Id:
rs377659973
gnomAD v2:
17-7128412-T-A
gnomAD v4:
17-7225093-T-A
MyVariant Identifiers:
chr17:g.7128412T>A (hg19)
chr17:g.7128412_7128413delinsAC (hg19)
chr17:g.7225093T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225093T>A , CM000679.2:g.7225093T>A | GRCh38 |
| NC_000017.10:g.7128412T>A , CM000679.1:g.7128412T>A | GRCh37 |
| NC_000017.9:g.7069136T>A | NCBI36 |
| NG_007975.1:g.10260T>A | |
| NG_033038.1:g.14452A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1964T>A MANE Select | ENSP00000349297.5:p.Phe655Tyr | |
| ENST00000322910.9:c.*1919T>A | ENSP00000325395.5:n.*1919T>A | |
| ENST00000350303.9:c.1898T>A | ENSP00000344152.5:p.Phe633Tyr | |
| ENST00000356839.9:c.1964T>A | ENSP00000349297.5:p.Phe655Tyr | |
| ENST00000542255.6:c.843T>A | ||
| ENST00000543245.6:c.2033T>A | ENSP00000438689.2:p.Phe678Tyr | |
| ENST00000578033.1:n.389T>A | ||
| ENST00000578319.5:n.545T>A | ||
| ENST00000578711.1:n.1589T>A | ||
| ENST00000578809.5:n.536T>A | ||
| ENST00000579425.5:n.1080T>A | ||
| ENST00000583848.5:c.330T>A | ENSP00000466487.1:n.330T>A | |
| ENST00000583850.5:n.735T>A | ||
| ENST00000583858.5:c.895T>A | ||
| NM_000018.3:c.1964T>A | NP_000009.1:p.Phe655Tyr | |
| NM_001033859.2:c.1898T>A | NP_001029031.1:p.Phe633Tyr | |
| NM_001270447.1:c.2033T>A | NP_001257376.1:p.Phe678Tyr | |
| NM_001270448.1:c.1736T>A | NP_001257377.1:p.Phe579Tyr | |
| XM_006721516.2:c.1985T>A | XP_006721579.2:p.Phe662Tyr | |
| XM_011523829.1:c.1883T>A | XP_011522131.1:p.Phe628Tyr | |
| XM_011523830.1:c.1862T>A | XP_011522132.1:p.Phe621Tyr | |
| XR_934021.1:n.2067T>A | ||
| XR_934022.1:n.1973T>A | ||
| XR_934023.1:n.1994T>A | ||
| XM_006721516.3:c.1985T>A | XP_006721579.2:p.Phe662Tyr | |
| XM_011523829.2:c.1883T>A | XP_011522131.1:p.Phe628Tyr | |
| XM_011523830.2:c.1862T>A | XP_011522132.1:p.Phe621Tyr | |
| XM_024450741.1:c.1952T>A | XP_024306509.1:p.Phe651Tyr | |
| XR_934021.2:n.2019T>A | ||
| XR_934022.2:n.1925T>A | ||
| XR_934023.2:n.1946T>A | ||
| NM_000018.4:c.1964T>A MANE Select | NP_000009.1:p.Phe655Tyr | |
| NM_001033859.3:c.1898T>A | NP_001029031.1:p.Phe633Tyr | |
| NM_001270447.2:c.2033T>A | NP_001257376.1:p.Phe678Tyr | |
| NM_001270448.2:c.1736T>A | NP_001257377.1:p.Phe579Tyr |