Linked Data
dbSNP Id:
rs759853148
ExAC:
15:89873379 T / C
gnomAD v2:
15-89873379-T-C
gnomAD v4:
15-89330148-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330148T>C , CM000677.2:g.89330148T>C | GRCh38 |
| NC_000015.9:g.89873379T>C , CM000677.1:g.89873379T>C | GRCh37 |
| NC_000015.8:g.87674383T>C | NCBI36 |
| NG_008218.1:g.9648A>G | |
| NG_008218.2:g.9648A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.788A>G | ENSP00000516154.1:p.Glu263Gly | |
| ENST00000268124.11:c.788A>G MANE Select | ENSP00000268124.5:p.Glu263Gly | |
| ENST00000530292.3:c.389A>G | ENSP00000432885.2:p.Glu130Gly | |
| ENST00000635986.2:c.788A>G | ENSP00000490653.2:p.Glu263Gly | |
| ENST00000636774.1:c.788A>G | ENSP00000489799.1:p.Glu263Gly | |
| ENST00000666746.1:c.445A>G | ||
| ENST00000672071.1:n.986A>G | ||
| ENST00000268124.9:c.788A>G | ENSP00000268124.5:p.Glu263Gly | |
| ENST00000442287.6:c.788A>G | ENSP00000399851.2:p.Glu263Gly | |
| ENST00000631044.2:c.*171A>G | ENSP00000486730.1:n.*171A>G | |
| NM_001126131.1:c.788A>G | NP_001119603.1:p.Glu263Gly | |
| NM_002693.2:c.788A>G | NP_002684.1:p.Glu263Gly | |
| NM_001126131.2:c.788A>G | NP_001119603.1:p.Glu263Gly | |
| NM_002693.3:c.788A>G MANE Select | NP_002684.1:p.Glu263Gly |