Linked Data
ClinVar Variation Id:
180914
dbSNP Id:
rs730880522
ExAC:
19:4099331 C / T
gnomAD v2:
19-4099331-C-T
gnomAD v3:
19-4099333-C-T
gnomAD v4:
19-4099333-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099333C>T , CM000681.2:g.4099333C>T | GRCh38 |
| NC_000019.9:g.4099331C>T , CM000681.1:g.4099331C>T | GRCh37 |
| NC_000019.8:g.4050331C>T | NCBI36 |
| NG_007996.1:g.29796G>A , LRG_750:g.29796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1226G>A | ||
| ENST00000687128.1:n.1226G>A | ||
| ENST00000688002.1:n.1081G>A | ||
| ENST00000689792.1:n.691G>A | ||
| ENST00000262948.10:c.787G>A MANE Select | ENSP00000262948.4:p.Gly263Arg | |
| ENST00000262948.9:c.787G>A | ENSP00000262948.3:p.Gly263Arg | |
| ENST00000394867.8:c.496G>A | ENSP00000378336.1:p.Gly166Arg | |
| ENST00000593364.5:n.734G>A | ||
| ENST00000595715.1:n.602G>A | ||
| ENST00000597263.5:n.169+1686G>A | ||
| ENST00000599021.1:c.29+1686G>A | ||
| ENST00000600584.5:n.1347G>A | ||
| ENST00000601786.5:n.1088G>A | ||
| NM_030662.3:c.787G>A , LRG_750t1:c.787G>A | NP_109587.1:p.Gly263Arg | |
| XM_006722799.2:c.705+1686G>A | XP_006722862.1:n.705+1686G>A | |
| XM_011528133.1:c.217G>A | XP_011526435.1:p.Gly73Arg | |
| XM_017026989.1:c.787G>A | XP_016882478.1:p.Gly263Arg | |
| XM_017026990.1:c.705+1686G>A | XP_016882479.1:n.705+1686G>A | |
| NM_030662.4:c.787G>A MANE Select | NP_109587.1:p.Gly263Arg |