Linked Data
ClinVar Variation Id:
514450
ClinVar RCV Id:
RCV000604958
dbSNP Id:
rs201583773
ExAC:
5:145493696 G / A
gnomAD v2:
5-145493696-G-A
gnomAD v3:
5-146114133-G-A
gnomAD v4:
5-146114133-G-A
COSMIC:
COSM1434877
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146114133G>A , CM000667.2:g.146114133G>A | GRCh38 |
| NC_000005.9:g.145493696G>A , CM000667.1:g.145493696G>A | GRCh37 |
| NC_000005.8:g.145473889G>A | NCBI36 |
| NG_042294.1:g.73599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.3504C>T MANE Select | ENSP00000377954.2:p.Gly1168= | |
| ENST00000504323.6:n.3934C>T | ||
| ENST00000506231.6:n.6386C>T | ||
| ENST00000674158.1:c.3123C>T | ENSP00000501474.1:p.Gly1041= | |
| ENST00000674170.1:c.*1942C>T | ENSP00000501381.1:n.*1942C>T | |
| ENST00000674174.1:c.3342C>T | ENSP00000501434.1:p.Gly1114= | |
| ENST00000674181.1:c.1751C>T | ||
| ENST00000674191.1:c.3048C>T | ENSP00000501478.1:p.Gly1016= | |
| ENST00000674218.1:n.6291C>T | ||
| ENST00000674270.1:c.3366C>T | ENSP00000501365.1:p.Gly1122= | |
| ENST00000674277.1:c.3339C>T | ENSP00000501510.1:p.Gly1113= | |
| ENST00000674290.1:c.3468C>T | ENSP00000501435.1:p.Gly1156= | |
| ENST00000674309.1:c.*860C>T | ENSP00000501400.1:n.*860C>T | |
| ENST00000674383.1:n.6157C>T | ||
| ENST00000674398.1:c.3501C>T | ENSP00000501476.1:p.Gly1167= | |
| ENST00000674447.1:c.3423C>T | ENSP00000501376.1:p.Gly1141= | |
| ENST00000674467.1:c.*1426C>T | ENSP00000501351.1:n.*1426C>T | |
| ENST00000674471.1:n.3772C>T | ||
| ENST00000674479.1:n.4541C>T | ||
| ENST00000274562.13:c.1431C>T | ENSP00000274562.10:p.Gly477= | |
| ENST00000394434.6:c.3504C>T | ENSP00000377954.2:p.Gly1168= | |
| ENST00000506231.5:n.3485C>T | ||
| ENST00000510191.5:c.3342C>T | ENSP00000426005.1:p.Gly1114= | |
| NM_020117.9:c.3504C>T | NP_064502.9:p.Gly1168= | |
| XM_011537655.1:c.3366C>T | XP_011535957.1:p.Gly1122= | |
| XM_011537656.1:c.3342C>T | XP_011535958.1:p.Gly1114= | |
| XM_011537657.1:c.3291C>T | XP_011535959.1:p.Gly1097= | |
| NM_001317964.1:c.3366C>T | NP_001304893.1:p.Gly1122= | |
| NM_001317965.1:c.3342C>T | NP_001304894.1:p.Gly1114= | |
| NM_016460.3:c.3423C>T | NP_057544.2:p.Gly1141= | |
| NM_020117.10:c.3504C>T | NP_064502.9:p.Gly1168= | |
| XM_011537656.3:c.3342C>T | XP_011535958.1:p.Gly1114= | |
| NM_020117.11:c.3504C>T MANE Select | NP_064502.9:p.Gly1168= | |
| NM_001317964.2:c.3366C>T | NP_001304893.1:p.Gly1122= | |
| NM_001317965.2:c.3342C>T | NP_001304894.1:p.Gly1114= | |
| NM_016460.4:c.3423C>T | NP_057544.2:p.Gly1141= |