Linked Data
dbSNP Id:
rs781913850
ExAC:
10:48388913 C / G
gnomAD v2:
10-48388913-C-G
gnomAD v4:
10-47350449-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350449G>C , CM000672.2:g.47350449G>C | GRCh38 |
| NC_000010.10:g.48388913C>G , CM000672.1:g.48388913C>G | GRCh37 |
| NC_000010.9:g.48008919C>G | NCBI36 |
| NG_029718.1:g.7079G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1965G>C MANE Select | ENSP00000463151.1:p.Glu655Asp | |
| ENST00000584701.1:c.1965G>C | ENSP00000463151.1:p.Glu655Asp | |
| NM_002900.2:c.1965G>C | NP_002891.1:p.Glu655Asp | |
| NM_002900.3:c.1965G>C MANE Select | NP_002891.1:p.Glu655Asp |