Linked Data
ClinVar Variation Id:
46227
dbSNP Id:
rs374807671
ExAC:
19:4094478 C / T
gnomAD v2:
19-4094478-C-T
gnomAD v3:
19-4094480-C-T
gnomAD v4:
19-4094480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4094480C>T , CM000681.2:g.4094480C>T | GRCh38 |
| NC_000019.9:g.4094478C>T , CM000681.1:g.4094478C>T | GRCh37 |
| NC_000019.8:g.4045478C>T | NCBI36 |
| NG_007996.1:g.34649G>A , LRG_750:g.34649G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1504G>A | ||
| ENST00000688002.1:n.3216G>A | ||
| ENST00000688751.1:n.201G>A | ||
| ENST00000689792.1:n.969G>A | ||
| ENST00000262948.10:c.1065G>A MANE Select | ENSP00000262948.4:p.Ala355= | |
| ENST00000262948.9:c.1065G>A | ENSP00000262948.3:p.Ala355= | |
| ENST00000394867.8:c.774G>A | ENSP00000378336.1:p.Ala258= | |
| ENST00000597263.5:n.250G>A | ||
| ENST00000599021.1:c.175G>A | ||
| ENST00000600584.5:n.2514G>A | ||
| ENST00000601786.5:n.1366G>A | ||
| NM_030662.3:c.1065G>A , LRG_750t1:c.1065G>A | NP_109587.1:p.Ala355= | |
| XM_006722799.2:c.786G>A | XP_006722862.1:p.Ala262= | |
| XM_011528133.1:c.495G>A | XP_011526435.1:p.Ala165= | |
| NM_030662.4:c.1065G>A MANE Select | NP_109587.1:p.Ala355= |