Linked Data
ClinVar Variation Id:
1407126
ClinVar RCV Id:
RCV001907077
dbSNP Id:
rs782128569
ExAC:
10:48389120 T / G
gnomAD v2:
10-48389120-T-G
gnomAD v3:
10-47350242-A-C
gnomAD v4:
10-47350242-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350242A>C , CM000672.2:g.47350242A>C | GRCh38 |
| NC_000010.10:g.48389120T>G , CM000672.1:g.48389120T>G | GRCh37 |
| NC_000010.9:g.48009126T>G | NCBI36 |
| NG_029718.1:g.6872A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1758A>C MANE Select | ENSP00000463151.1:p.Glu586Asp | |
| ENST00000584701.1:c.1758A>C | ENSP00000463151.1:p.Glu586Asp | |
| NM_002900.2:c.1758A>C | NP_002891.1:p.Glu586Asp | |
| NM_002900.3:c.1758A>C MANE Select | NP_002891.1:p.Glu586Asp |