Linked Data
dbSNP Id:
rs1357913960
gnomAD v2:
16-30767700-G-T
gnomAD v3:
16-30756379-G-T
gnomAD v4:
16-30756379-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756379G>T , CM000678.2:g.30756379G>T | GRCh38 |
| NC_000016.9:g.30767700G>T , CM000678.1:g.30767700G>T | GRCh37 |
| NC_000016.8:g.30675201G>T | NCBI36 |
| NG_016616.1:g.13081G>T | |
| NG_016616.2:g.13081G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.660G>T MANE Select | ENSP00000455607.1:p.Gly220= | |
| ENST00000328273.11:c.672G>T | ENSP00000329968.7:p.Gly224= | |
| ENST00000424889.7:c.660G>T | ENSP00000388571.3:p.Gly220= | |
| ENST00000563588.5:c.660G>T | ENSP00000455607.1:p.Gly220= | |
| ENST00000563913.5:n.993G>T | ||
| ENST00000564838.5:n.931-211G>T | ||
| ENST00000565897.5:c.660G>T | ENSP00000457359.1:p.Gly220= | |
| ENST00000565924.5:c.660G>T | ENSP00000455091.1:p.Gly220= | |
| ENST00000569684.1:n.1084G>T | ||
| NM_000294.2:c.660G>T | NP_000285.1:p.Gly220= | |
| NM_001172432.1:c.660G>T | NP_001165903.1:p.Gly220= | |
| NM_000294.3:c.660G>T MANE Select | NP_000285.1:p.Gly220= | |
| NM_001172432.2:c.660G>T | NP_001165903.1:p.Gly220= |