Linked Data
dbSNP Id:
rs906026920
gnomAD v2:
16-30767351-T-G
gnomAD v3:
16-30756030-T-G
gnomAD v4:
16-30756030-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756030T>G , CM000678.2:g.30756030T>G | GRCh38 |
| NC_000016.9:g.30767351T>G , CM000678.1:g.30767351T>G | GRCh37 |
| NC_000016.8:g.30674852T>G | NCBI36 |
| NG_016616.1:g.12732T>G | |
| NG_016616.2:g.12732T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.557-152T>G MANE Select | ENSP00000455607.1:n.557-152T>G | |
| ENST00000328273.11:c.557-152T>G | ENSP00000329968.7:n.557-152T>G | |
| ENST00000424889.7:c.557-152T>G | ENSP00000388571.3:n.557-152T>G | |
| ENST00000563588.5:c.557-152T>G | ENSP00000455607.1:n.557-152T>G | |
| ENST00000563913.5:n.890-152T>G | ||
| ENST00000564838.5:n.931-560T>G | ||
| ENST00000565897.5:c.557-152T>G | ENSP00000457359.1:n.557-152T>G | |
| ENST00000565924.5:c.557-152T>G | ENSP00000455091.1:n.557-152T>G | |
| ENST00000569684.1:n.969-152T>G | ||
| NM_000294.2:c.557-152T>G | NP_000285.1:n.557-152T>G | |
| NM_001172432.1:c.557-152T>G | NP_001165903.1:n.557-152T>G | |
| NM_000294.3:c.557-152T>G MANE Select | NP_000285.1:n.557-152T>G | |
| NM_001172432.2:c.557-152T>G | NP_001165903.1:n.557-152T>G |