Linked Data
dbSNP Id:
rs368818999
ExAC:
1:8045051 T / G
gnomAD v2:
1-8045051-T-G
gnomAD v3:
1-7984991-T-G
gnomAD v4:
1-7984991-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7984991T>G , CM000663.2:g.7984991T>G | GRCh38 |
| NC_000001.10:g.8045051T>G , CM000663.1:g.8045051T>G | GRCh37 |
| NC_000001.9:g.7967638T>G | NCBI36 |
| NG_008271.1:g.28338T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.507T>G MANE Select | ENSP00000340278.5:p.Val169= | |
| ENST00000338639.9:c.507T>G | ENSP00000340278.5:p.Val169= | |
| ENST00000377488.5:c.507T>G | ENSP00000366708.1:p.Val169= | |
| ENST00000377491.5:c.507T>G | ENSP00000366711.1:p.Val169= | |
| ENST00000377493.9:c.447T>G | ENSP00000466242.1:p.Val149= | |
| ENST00000469225.1:c.420T>G | ENSP00000466756.1:p.Val140= | |
| ENST00000493373.5:c.507T>G | ENSP00000465404.1:p.Val169= | |
| ENST00000493678.5:c.507T>G | ENSP00000418770.1:p.Val169= | |
| NM_001123377.1:c.507T>G | NP_001116849.1:p.Val169= | |
| NM_007262.4:c.507T>G | NP_009193.2:p.Val169= | |
| XM_005263424.2:c.507T>G | XP_005263481.1:p.Val169= | |
| XM_005263424.3:c.507T>G | XP_005263481.1:p.Val169= | |
| NM_007262.5:c.507T>G MANE Select | NP_009193.2:p.Val169= | |
| NM_001123377.2:c.507T>G | NP_001116849.1:p.Val169= |