Linked Data
dbSNP Id:
rs782209617
ExAC:
10:48388921 G / T
gnomAD v2:
10-48388921-G-T
gnomAD v3:
10-47350441-C-A
gnomAD v4:
10-47350441-C-A
MyVariant Identifiers:
chr10:g.48388921G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350441C>A , CM000672.2:g.47350441C>A | GRCh38 |
| NC_000010.10:g.48388921G>T , CM000672.1:g.48388921G>T | GRCh37 |
| NC_000010.9:g.48008927G>T | NCBI36 |
| NG_029718.1:g.7071C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1957C>A MANE Select | ENSP00000463151.1:p.Arg653= | |
| ENST00000584701.1:c.1957C>A | ENSP00000463151.1:p.Arg653= | |
| NM_002900.2:c.1957C>A | NP_002891.1:p.Arg653= | |
| NM_002900.3:c.1957C>A MANE Select | NP_002891.1:p.Arg653= |