Linked Data
ClinVar Variation Id:
540533
dbSNP Id:
rs576058376
ExAC:
2:220146680 A / G
gnomAD v2:
2-220146680-A-G
gnomAD v3:
2-219281958-A-G
gnomAD v4:
2-219281958-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219281958A>G , CM000664.2:g.219281958A>G | GRCh38 |
| NC_000002.11:g.220146680A>G , CM000664.1:g.220146680A>G | GRCh37 |
| NC_000002.10:g.219854924A>G | NCBI36 |
| NG_029553.1:g.7641A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683651.1:n.952A>G | ||
| ENST00000684599.1:n.456A>G | ||
| ENST00000336576.10:c.249A>G MANE Select | ENSP00000338019.5:p.Ala83= | |
| ENST00000336576.9:c.249A>G | ENSP00000338019.5:p.Ala83= | |
| ENST00000392086.8:c.249A>G | ENSP00000375936.4:p.Ala83= | |
| ENST00000392087.6:c.249A>G | ENSP00000375937.2:p.Ala83= | |
| ENST00000421532.5:c.249A>G | ENSP00000395173.1:p.Ala83= | |
| ENST00000425450.5:c.249A>G | ENSP00000414796.1:p.Ala83= | |
| ENST00000439026.1:c.249A>G | ENSP00000387951.1:p.Ala83= | |
| ENST00000442681.5:c.249A>G | ENSP00000392790.1:p.Ala83= | |
| ENST00000463463.5:n.240A>G | ||
| ENST00000477917.5:n.1467A>G | ||
| ENST00000480537.5:n.437A>G | ||
| ENST00000487855.1:n.149A>G | ||
| NM_001039550.1:c.249A>G | NP_001034639.1:p.Ala83= | |
| NM_006736.5:c.249A>G | NP_006727.2:p.Ala83= | |
| NM_001039550.2:c.249A>G | NP_001034639.1:p.Ala83= | |
| NM_006736.6:c.249A>G MANE Select | NP_006727.2:p.Ala83= |