Linked Data
dbSNP Id:
rs758536049
ExAC:
1:180772539 C / G
gnomAD v2:
1-180772539-C-G
gnomAD v4:
1-180803403-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180803403C>G , CM000663.2:g.180803403C>G | GRCh38 |
| NC_000001.10:g.180772539C>G , CM000663.1:g.180772539C>G | GRCh37 |
| NC_000001.9:g.179039162C>G | NCBI36 |
| NG_050964.1:g.176394C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367590.9:c.239C>G MANE Select | ENSP00000356562.4:p.Ala80Gly | |
| ENST00000367589.3:c.239C>G | ENSP00000356561.3:p.Ala80Gly | |
| ENST00000367590.8:c.239C>G | ENSP00000356562.4:p.Ala80Gly | |
| NM_001135669.1:c.239C>G | NP_001129141.1:p.Ala80Gly | |
| NM_004736.3:c.239C>G | NP_004727.2:p.Ala80Gly | |
| NM_001328662.1:c.239C>G | NP_001315591.1:p.Ala80Gly | |
| NR_137330.1:n.431C>G | ||
| NM_001135669.2:c.239C>G | NP_001129141.1:p.Ala80Gly | |
| NM_001328662.2:c.239C>G | NP_001315591.1:p.Ala80Gly | |
| NM_004736.4:c.239C>G MANE Select | NP_004727.2:p.Ala80Gly | |
| NR_137330.2:n.419C>G |