Linked Data
ClinVar Variation Id:
932784
ClinVar RCV Id:
RCV001200725
dbSNP Id:
rs768878569
gnomAD v4:
17-7225066-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225066G>T , CM000679.2:g.7225066G>T | GRCh38 |
| NC_000017.10:g.7128385G>T , CM000679.1:g.7128385G>T | GRCh37 |
| NC_000017.9:g.7069109G>T | NCBI36 |
| NG_007975.1:g.10233G>T | |
| NG_033038.1:g.14479C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1937G>T MANE Select | ENSP00000349297.5:p.Gly646Val | |
| ENST00000322910.9:c.*1892G>T | ENSP00000325395.5:n.*1892G>T | |
| ENST00000350303.9:c.1871G>T | ENSP00000344152.5:p.Gly624Val | |
| ENST00000356839.9:c.1937G>T | ENSP00000349297.5:p.Gly646Val | |
| ENST00000542255.6:c.816G>T | ||
| ENST00000543245.6:c.2006G>T | ENSP00000438689.2:p.Gly669Val | |
| ENST00000578033.1:n.362G>T | ||
| ENST00000578319.5:n.518G>T | ||
| ENST00000578711.1:n.1562G>T | ||
| ENST00000578809.5:n.509G>T | ||
| ENST00000579425.5:n.1053G>T | ||
| ENST00000583848.5:c.303G>T | ENSP00000466487.1:n.303G>T | |
| ENST00000583850.5:n.708G>T | ||
| ENST00000583858.5:c.868G>T | ||
| NM_000018.3:c.1937G>T | NP_000009.1:p.Gly646Val | |
| NM_001033859.2:c.1871G>T | NP_001029031.1:p.Gly624Val | |
| NM_001270447.1:c.2006G>T | NP_001257376.1:p.Gly669Val | |
| NM_001270448.1:c.1709G>T | NP_001257377.1:p.Gly570Val | |
| XM_006721516.2:c.1958G>T | XP_006721579.2:p.Gly653Val | |
| XM_011523829.1:c.1856G>T | XP_011522131.1:p.Gly619Val | |
| XM_011523830.1:c.1835G>T | XP_011522132.1:p.Gly612Val | |
| XR_934021.1:n.2040G>T | ||
| XR_934022.1:n.1946G>T | ||
| XR_934023.1:n.1967G>T | ||
| XM_006721516.3:c.1958G>T | XP_006721579.2:p.Gly653Val | |
| XM_011523829.2:c.1856G>T | XP_011522131.1:p.Gly619Val | |
| XM_011523830.2:c.1835G>T | XP_011522132.1:p.Gly612Val | |
| XM_024450741.1:c.1925G>T | XP_024306509.1:p.Gly642Val | |
| XR_934021.2:n.1992G>T | ||
| XR_934022.2:n.1898G>T | ||
| XR_934023.2:n.1919G>T | ||
| NM_000018.4:c.1937G>T MANE Select | NP_000009.1:p.Gly646Val | |
| NM_001033859.3:c.1871G>T | NP_001029031.1:p.Gly624Val | |
| NM_001270447.2:c.2006G>T | NP_001257376.1:p.Gly669Val | |
| NM_001270448.2:c.1709G>T | NP_001257377.1:p.Gly570Val |