Linked Data
dbSNP Id:
rs377141209
gnomAD v2:
15-75042425-C-G
gnomAD v3:
15-74750084-C-G
gnomAD v4:
15-74750084-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750084C>G , CM000677.2:g.74750084C>G | GRCh38 |
| NC_000015.9:g.75042425C>G , CM000677.1:g.75042425C>G | GRCh37 |
| NC_000015.8:g.72829478C>G | NCBI36 |
| NG_008431.1:g.32543C>G | |
| NG_008431.2:g.32543C>G | |
| NG_061543.1:g.6240C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.346C>G MANE Select | ENSP00000342007.4:p.Leu116Val | |
| ENST00000343932.4:c.346C>G | ENSP00000342007.4:p.Leu116Val | |
| NM_000761.4:c.346C>G | NP_000752.2:p.Leu116Val | |
| NM_000761.5:c.346C>G MANE Select | NP_000752.2:p.Leu116Val |