Linked Data
dbSNP Id:
rs1237908709
gnomAD v2:
11-116703738-C-G
gnomAD v3:
11-116833022-C-G
gnomAD v4:
11-116833022-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116833022C>G , CM000673.2:g.116833022C>G | GRCh38 |
| NC_000011.9:g.116703738C>G , CM000673.1:g.116703738C>G | GRCh37 |
| NC_000011.8:g.116208948C>G | NCBI36 |
| NG_008949.1:g.8115C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.*138C>G MANE Select | ENSP00000227667.2:n.*138C>G | |
| ENST00000227667.7:c.*138C>G | ENSP00000227667.2:n.*138C>G | |
| ENST00000375345.3:c.*138C>G | ENSP00000364494.1:n.*138C>G | |
| ENST00000630701.1:c.492C>G | ENSP00000486182.1:n.492C>G | |
| NM_000040.1:c.*138C>G | NP_000031.1:n.*138C>G | |
| NM_000040.2:c.*138C>G | NP_000031.1:n.*138C>G | |
| NM_000040.3:c.*138C>G MANE Select | NP_000031.1:n.*138C>G |