Linked Data
ClinVar Variation Id:
130580
dbSNP Id:
rs76484116
ExAC:
19:14675072 C / A
gnomAD v2:
19-14675072-C-A
gnomAD v3:
19-14564260-C-A
gnomAD v4:
19-14564260-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14564260C>A , CM000681.2:g.14564260C>A | GRCh38 |
| NC_000019.9:g.14675072C>A , CM000681.1:g.14675072C>A | GRCh37 |
| NC_000019.8:g.14536072C>A | NCBI36 |
| NG_028336.1:g.39694C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215567.10:c.462C>A MANE Select | ENSP00000215567.4:p.Gly154= | |
| ENST00000596073.6:c.576C>A | ENSP00000472697.2:p.Gly192= | |
| ENST00000642961.1:n.599C>A | ||
| ENST00000215567.9:c.462C>A | ENSP00000215567.4:p.Gly154= | |
| ENST00000593637.5:n.633C>A | ||
| ENST00000594545.5:c.-4C>A | ENSP00000469343.1:n.-4C>A | |
| ENST00000596073.5:c.-4C>A | ENSP00000472697.1:n.-4C>A | |
| ENST00000596953.5:n.518C>A | ||
| ENST00000597607.5:n.502C>A | ||
| ENST00000598298.5:c.-4C>A | ENSP00000471341.1:n.-4C>A | |
| ENST00000598333.5:c.*109C>A | ENSP00000473129.1:n.*109C>A | |
| ENST00000598987.5:c.*349C>A | ENSP00000472504.1:n.*349C>A | |
| ENST00000600083.5:c.-4C>A | ENSP00000472114.1:n.-4C>A | |
| ENST00000600395.5:n.203C>A | ||
| ENST00000601187.1:c.32C>A | ENSP00000472957.1:p.Ala11Glu | |
| ENST00000601350.5:n.9C>A | ||
| ENST00000601461.1:n.546C>A | ||
| NM_138501.5:c.462C>A | NP_612510.1:p.Gly154= | |
| NR_038103.1:n.624C>A | ||
| NR_038104.1:n.657C>A | ||
| XM_006722945.1:c.561C>A | XP_006723008.1:p.Gly187= | |
| XM_006722947.1:c.507C>A | XP_006723010.1:p.Gly169= | |
| XM_011528442.1:c.525C>A | XP_011526744.1:p.Gly175= | |
| NM_001321170.1:c.507C>A | NP_001308099.1:p.Gly169= | |
| XM_006722945.2:c.561C>A | XP_006723008.1:p.Gly187= | |
| XM_011528442.2:c.525C>A | XP_011526744.1:p.Gly175= | |
| XM_024451790.1:c.561C>A | XP_024307558.1:p.Gly187= | |
| XM_024451791.1:c.561C>A | XP_024307559.1:p.Gly187= | |
| XM_024451792.1:c.525C>A | XP_024307560.1:p.Gly175= | |
| XM_024451793.1:c.525C>A | XP_024307561.1:p.Gly175= | |
| XM_024451794.1:c.507C>A | XP_024307562.1:p.Gly169= | |
| XM_024451795.1:c.507C>A | XP_024307563.1:p.Gly169= | |
| XM_024451796.1:c.462C>A | XP_024307564.1:p.Gly154= | |
| XM_024451797.1:c.462C>A | XP_024307565.1:p.Gly154= | |
| XM_024451798.1:c.-4C>A | XP_024307566.1:n.-4C>A | |
| XM_024451799.1:c.-4C>A | XP_024307567.1:n.-4C>A | |
| XM_024451800.1:c.-4C>A | XP_024307568.1:n.-4C>A | |
| NM_138501.6:c.462C>A MANE Select | NP_612510.1:p.Gly154= |