Linked Data
ClinVar Variation Id:
2768026
ClinVar RCV Id:
RCV003540430
dbSNP Id:
rs1348137830
gnomAD v2:
19-4099405-C-T
gnomAD v3:
19-4099407-C-T
gnomAD v4:
19-4099407-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099407C>T , CM000681.2:g.4099407C>T | GRCh38 |
| NC_000019.9:g.4099405C>T , CM000681.1:g.4099405C>T | GRCh37 |
| NC_000019.8:g.4050405C>T | NCBI36 |
| NG_007996.1:g.29722G>A , LRG_750:g.29722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1152G>A | ||
| ENST00000687128.1:n.1152G>A | ||
| ENST00000688002.1:n.1007G>A | ||
| ENST00000689792.1:n.646-29G>A | ||
| ENST00000262948.10:c.713G>A MANE Select | ENSP00000262948.4:p.Arg238Gln | |
| ENST00000262948.9:c.713G>A | ENSP00000262948.3:p.Arg238Gln | |
| ENST00000394867.8:c.422G>A | ENSP00000378336.1:p.Arg141Gln | |
| ENST00000593364.5:n.660G>A | ||
| ENST00000595715.1:n.528G>A | ||
| ENST00000597263.5:n.169+1612G>A | ||
| ENST00000599021.1:c.29+1612G>A | ||
| ENST00000600584.5:n.1273G>A | ||
| ENST00000601786.5:n.1014G>A | ||
| NM_030662.3:c.713G>A , LRG_750t1:c.713G>A | NP_109587.1:p.Arg238Gln | |
| XM_006722799.2:c.705+1612G>A | XP_006722862.1:n.705+1612G>A | |
| XM_011528133.1:c.143G>A | XP_011526435.1:p.Arg48Gln | |
| XM_017026989.1:c.713G>A | XP_016882478.1:p.Arg238Gln | |
| XM_017026990.1:c.705+1612G>A | XP_016882479.1:n.705+1612G>A | |
| NM_030662.4:c.713G>A MANE Select | NP_109587.1:p.Arg238Gln |