Linked Data
dbSNP Id:
rs755370891
ExAC:
4:69512875 G / C
gnomAD v2:
4-69512875-G-C
gnomAD v3:
4-68647157-G-C
gnomAD v4:
4-68647157-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647157G>C , CM000666.2:g.68647157G>C | GRCh38 |
| NC_000004.11:g.69512875G>C , CM000666.1:g.69512875G>C | GRCh37 |
| NC_000004.10:g.69195470G>C | NCBI36 |
| NG_052676.1:g.28620C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1540C>G MANE Select | ENSP00000341045.5:p.Leu514Val | |
| ENST00000338206.5:c.1540C>G | ENSP00000341045.5:p.Leu514Val | |
| ENST00000616841.4:c.1540C>G | ENSP00000482004.1:p.Leu514Val | |
| NM_001076.3:c.1540C>G | NP_001067.2:p.Leu514Val | |
| NM_001076.4:c.1540C>G MANE Select | NP_001067.2:p.Leu514Val |