Linked Data
dbSNP Id:
rs751227104
ExAC:
10:112361683 A / G
gnomAD v2:
10-112361683-A-G
gnomAD v4:
10-110601925-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601925A>G , CM000672.2:g.110601925A>G | GRCh38 |
| NC_000010.10:g.112361683A>G , CM000672.1:g.112361683A>G | GRCh37 |
| NC_000010.9:g.112351673A>G | NCBI36 |
| NG_012217.1:g.39235A>G , LRG_774:g.39235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5126-41A>G | ||
| ENST00000685743.1:n.2601-41A>G | ||
| ENST00000686057.1:n.1244-41A>G | ||
| ENST00000689321.1:n.1856-41A>G | ||
| ENST00000689986.1:n.682-41A>G | ||
| ENST00000361804.5:c.2893-41A>G MANE Select | ENSP00000354720.5:n.2893-41A>G | |
| ENST00000361804.4:c.2893-41A>G | ENSP00000354720.4:n.2893-41A>G | |
| NM_005445.3:c.2893-41A>G , LRG_774t1:c.2893-41A>G | NP_005436.1:n.2893-41A>G | |
| NM_005445.4:c.2893-41A>G MANE Select | NP_005436.1:n.2893-41A>G |