Linked Data
dbSNP Id:
rs769578009
ExAC:
5:1414771 A / C
gnomAD v2:
5-1414771-A-C
gnomAD v4:
5-1414656-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414656A>C , CM000667.2:g.1414656A>C | GRCh38 |
| NC_000005.9:g.1414771A>C , CM000667.1:g.1414771A>C | GRCh37 |
| NC_000005.8:g.1467771A>C | NCBI36 |
| NG_015885.1:g.35773T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+35T>G MANE Select | ENSP00000270349.9:n.1156+35T>G | |
| ENST00000270349.11:c.1156+35T>G | ENSP00000270349.9:n.1156+35T>G | |
| NM_001044.4:c.1156+35T>G | NP_001035.1:n.1156+35T>G | |
| NM_001044.5:c.1156+35T>G MANE Select | NP_001035.1:n.1156+35T>G |