Linked Data
ClinVar Variation Id:
2697388
ClinVar RCV Id:
RCV003539526
dbSNP Id:
rs2040846741
gnomAD v4:
19-4090671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090671A>G , CM000681.2:g.4090671A>G | GRCh38 |
| NC_000019.9:g.4090669A>G , CM000681.1:g.4090669A>G | GRCh37 |
| NC_000019.8:g.4041669A>G | NCBI36 |
| NG_007996.1:g.38458T>C , LRG_750:g.38458T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1569T>C | ||
| ENST00000688002.1:n.3281T>C | ||
| ENST00000688751.1:n.266T>C | ||
| ENST00000689792.1:n.1034T>C | ||
| ENST00000262948.10:c.1130T>C MANE Select | ENSP00000262948.4:p.Val377Ala | |
| ENST00000262948.9:c.1130T>C | ENSP00000262948.3:p.Val377Ala | |
| ENST00000394867.8:c.839T>C | ENSP00000378336.1:p.Val280Ala | |
| ENST00000597263.5:n.315T>C | ||
| ENST00000599021.1:c.240T>C | ||
| ENST00000600584.5:n.2579T>C | ||
| ENST00000601786.5:n.1431T>C | ||
| NM_030662.3:c.1130T>C , LRG_750t1:c.1130T>C | NP_109587.1:p.Val377Ala | |
| XM_006722799.2:c.851T>C | XP_006722862.1:p.Val284Ala | |
| XM_011528133.1:c.560T>C | XP_011526435.1:p.Val187Ala | |
| NM_030662.4:c.1130T>C MANE Select | NP_109587.1:p.Val377Ala |