Linked Data
ClinVar Variation Id:
96108
ClinVar RCV Id:
RCV000082175
RCV000227473
RCV000711662
RCV000577971
RCV001563824
RCV001563823
RCV002453409
dbSNP Id:
rs143793528
ExAC:
19:47259048 C / G
gnomAD v2:
19-47259048-C-G
gnomAD v3:
19-46755791-C-G
gnomAD v4:
19-46755791-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46755791C>G , CM000681.2:g.46755791C>G | GRCh38 |
| NC_000019.9:g.47259048C>G , CM000681.1:g.47259048C>G | GRCh37 |
| NC_000019.8:g.51950888C>G | NCBI36 |
| NG_008898.2:g.14746C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318584.10:c.341C>G MANE Select | ENSP00000326570.4:p.Ala114Gly | |
| ENST00000318584.9:c.341C>G | ENSP00000326570.4:p.Ala114Gly | |
| ENST00000391909.7:c.341C>G | ENSP00000375776.2:p.Ala114Gly | |
| ENST00000593902.1:c.341C>G | ENSP00000470901.1:p.Ala114Gly | |
| ENST00000594467.5:c.-89C>G | ENSP00000471971.1:n.-89C>G | |
| ENST00000596974.5:n.567C>G | ||
| ENST00000597339.5:n.247-6042C>G | ||
| ENST00000600005.5:c.341C>G | ENSP00000470335.1:p.Ala114Gly | |
| ENST00000600646.5:n.247+7126C>G | ||
| ENST00000601299.5:c.341C>G | ENSP00000470103.1:p.Ala114Gly | |
| NM_001039885.2:c.341C>G | NP_001034974.1:p.Ala114Gly | |
| NM_024301.4:c.341C>G | NP_077277.1:p.Ala114Gly | |
| XM_005259247.1:c.341C>G | XP_005259304.1:p.Ala114Gly | |
| XM_005259248.1:c.341C>G | XP_005259305.1:p.Ala114Gly | |
| XM_005259249.3:c.341C>G | XP_005259306.1:p.Ala114Gly | |
| XM_005259250.3:c.341C>G | XP_005259307.1:p.Ala114Gly | |
| XM_011527301.1:c.341C>G | XP_011525603.1:p.Ala114Gly | |
| XM_011527302.1:c.341C>G | XP_011525604.1:p.Ala114Gly | |
| XM_011527303.1:c.341C>G | XP_011525605.1:p.Ala114Gly | |
| XM_011527304.1:c.341C>G | XP_011525606.1:p.Ala114Gly | |
| XM_011527305.1:c.341C>G | XP_011525607.1:p.Ala114Gly | |
| XM_011527306.1:c.341C>G | XP_011525608.1:p.Ala114Gly | |
| XM_011527307.1:c.341C>G | XP_011525609.1:p.Ala114Gly | |
| XM_005259247.2:c.341C>G | XP_005259304.1:p.Ala114Gly | |
| XM_005259248.2:c.341C>G | XP_005259305.1:p.Ala114Gly | |
| XM_005259249.4:c.341C>G | XP_005259306.1:p.Ala114Gly | |
| XM_011527306.2:c.341C>G | XP_011525608.1:p.Ala114Gly | |
| XM_017027297.2:c.341C>G | XP_016882786.1:p.Ala114Gly | |
| XM_024451707.1:c.341C>G | XP_024307475.1:p.Ala114Gly | |
| NM_001039885.3:c.341C>G | NP_001034974.1:p.Ala114Gly | |
| NM_024301.5:c.341C>G MANE Select | NP_077277.1:p.Ala114Gly |