Linked Data
ClinVar Variation Id:
439356
dbSNP Id:
rs374507980
ExAC:
17:7127659 G / A
gnomAD v2:
17-7127659-G-A
gnomAD v3:
17-7224340-G-A
gnomAD v4:
17-7224340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224340G>A , CM000679.2:g.7224340G>A | GRCh38 |
| NC_000017.10:g.7127659G>A , CM000679.1:g.7127659G>A | GRCh37 |
| NC_000017.9:g.7068383G>A | NCBI36 |
| NG_007975.1:g.9507G>A | |
| NG_008391.2:g.711C>T | |
| NG_033038.1:g.15205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1552G>A MANE Select | ENSP00000349297.5:p.Gly518Ser | |
| ENST00000322910.9:c.*1507G>A | ENSP00000325395.5:n.*1507G>A | |
| ENST00000350303.9:c.1486G>A | ENSP00000344152.5:p.Gly496Ser | |
| ENST00000356839.9:c.1552G>A | ENSP00000349297.5:p.Gly518Ser | |
| ENST00000542255.6:c.410G>A | ||
| ENST00000543245.6:c.1621G>A | ENSP00000438689.2:p.Gly541Ser | |
| ENST00000578319.5:n.47G>A | ||
| ENST00000578711.1:n.836G>A | ||
| ENST00000578809.5:n.124G>A | ||
| ENST00000579391.1:n.160G>A | ||
| ENST00000579425.5:n.668G>A | ||
| ENST00000579546.1:c.291G>A | ||
| ENST00000579894.5:n.339G>A | ||
| ENST00000582450.1:n.60G>A | ||
| ENST00000583074.5:n.173G>A | ||
| ENST00000583850.5:n.327G>A | ||
| ENST00000583858.5:c.483G>A | ||
| ENST00000585203.6:n.743G>A | ||
| NM_000018.3:c.1552G>A | NP_000009.1:p.Gly518Ser | |
| NM_001033859.2:c.1486G>A | NP_001029031.1:p.Gly496Ser | |
| NM_001270447.1:c.1621G>A | NP_001257376.1:p.Gly541Ser | |
| NM_001270448.1:c.1324G>A | NP_001257377.1:p.Gly442Ser | |
| XM_006721516.2:c.1552G>A | XP_006721579.2:p.Gly518Ser | |
| XM_011523829.1:c.1454G>A | XP_011522131.1:p.Arg485Gln | |
| XM_011523830.1:c.1454G>A | XP_011522132.1:p.Arg485Gln | |
| XR_934021.1:n.1659G>A | ||
| XR_934022.1:n.1561G>A | ||
| XR_934023.1:n.1561G>A | ||
| XM_006721516.3:c.1552G>A | XP_006721579.2:p.Gly518Ser | |
| XM_011523829.2:c.1454G>A | XP_011522131.1:p.Arg485Gln | |
| XM_011523830.2:c.1454G>A | XP_011522132.1:p.Arg485Gln | |
| XM_024450741.1:c.1454G>A | XP_024306509.1:p.Arg485Gln | |
| XR_934021.2:n.1611G>A | ||
| XR_934022.2:n.1513G>A | ||
| XR_934023.2:n.1513G>A | ||
| NM_000018.4:c.1552G>A MANE Select | NP_000009.1:p.Gly518Ser | |
| NM_001033859.3:c.1486G>A | NP_001029031.1:p.Gly496Ser | |
| NM_001270447.2:c.1621G>A | NP_001257376.1:p.Gly541Ser | |
| NM_001270448.2:c.1324G>A | NP_001257377.1:p.Gly442Ser |