Linked Data
dbSNP Id:
rs781720083
ExAC:
2:84658790 A / C
gnomAD v2:
2-84658790-A-C
gnomAD v4:
2-84431666-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84431666A>C , CM000664.2:g.84431666A>C | GRCh38 |
| NC_000002.11:g.84658790A>C , CM000664.1:g.84658790A>C | GRCh37 |
| NC_000002.10:g.84512301A>C | NCBI36 |
| NG_016755.1:g.32797T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.674-7T>G MANE Select | ENSP00000377446.2:n.674-7T>G | |
| ENST00000651342.1:c.*114-7T>G | ENSP00000498471.1:n.*114-7T>G | |
| ENST00000393868.6:c.674-7T>G | ENSP00000377446.2:n.674-7T>G | |
| ENST00000487809.1:n.421-7T>G | ||
| ENST00000491123.5:n.520-7T>G | ||
| NM_003849.3:c.674-7T>G | NP_003840.2:n.674-7T>G | |
| NM_003849.4:c.674-7T>G MANE Select | NP_003840.2:n.674-7T>G |