Linked Data
dbSNP Id:
rs928696847
gnomAD v2:
11-121177612-T-G
gnomAD v3:
11-121306903-T-G
gnomAD v4:
11-121306903-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121306903T>G , CM000673.2:g.121306903T>G | GRCh38 |
| NC_000011.9:g.121177612T>G , CM000673.1:g.121177612T>G | GRCh37 |
| NC_000011.8:g.120682822T>G | NCBI36 |
| NG_009446.1:g.19225T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.445-154T>G MANE Select | ENSP00000264027.4:n.445-154T>G | |
| ENST00000264027.8:c.445-154T>G | ENSP00000264027.4:n.445-154T>G | |
| ENST00000392789.2:c.445-154T>G | ENSP00000376539.2:n.445-154T>G | |
| ENST00000527183.1:n.738-154T>G | ||
| ENST00000527762.5:c.466-154T>G | ENSP00000436290.1:n.466-154T>G | |
| ENST00000528991.1:n.138-154T>G | ||
| ENST00000534230.5:c.445-154T>G | ENSP00000432550.1:n.445-154T>G | |
| NM_001024956.2:c.445-154T>G | NP_001020127.1:n.445-154T>G | |
| NM_006918.4:c.445-154T>G | NP_008849.2:n.445-154T>G | |
| NM_006918.5:c.445-154T>G MANE Select | NP_008849.2:n.445-154T>G | |
| NM_001024956.3:c.445-154T>G | NP_001020127.1:n.445-154T>G |