Linked Data
dbSNP Id:
rs746508687
ExAC:
17:39739865 T / G
gnomAD v2:
17-39739865-T-G
gnomAD v4:
17-41583613-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583613T>G , CM000679.2:g.41583613T>G | GRCh38 |
| NC_000017.10:g.39739865T>G , CM000679.1:g.39739865T>G | GRCh37 |
| NC_000017.9:g.36993391T>G | NCBI36 |
| NG_008624.1:g.8283A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.991A>C MANE Select | ENSP00000167586.6:p.Ile331Leu | |
| ENST00000167586.6:c.991A>C | ENSP00000167586.6:p.Ile331Leu | |
| ENST00000476662.1:n.441A>C | ||
| NM_000526.4:c.991A>C | NP_000517.2:p.Ile331Leu | |
| NM_000526.5:c.991A>C MANE Select | NP_000517.3:p.Ile331Leu |