Linked Data
dbSNP Id:
rs781205661
ExAC:
15:75042573 T / G
gnomAD v2:
15-75042573-T-G
gnomAD v4:
15-74750232-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750232T>G , CM000677.2:g.74750232T>G | GRCh38 |
| NC_000015.9:g.75042573T>G , CM000677.1:g.75042573T>G | GRCh37 |
| NC_000015.8:g.72829626T>G | NCBI36 |
| NG_008431.1:g.32691T>G | |
| NG_008431.2:g.32691T>G | |
| NG_061543.1:g.6388T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.494T>G MANE Select | ENSP00000342007.4:p.Val165Gly | |
| ENST00000343932.4:c.494T>G | ENSP00000342007.4:p.Val165Gly | |
| NM_000761.4:c.494T>G | NP_000752.2:p.Val165Gly | |
| NM_000761.5:c.494T>G MANE Select | NP_000752.2:p.Val165Gly |