Linked Data
dbSNP Id:
rs375620492
ExAC:
17:39740094 C / A
gnomAD v2:
17-39740094-C-A
gnomAD v3:
17-41583842-C-A
gnomAD v4:
17-41583842-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583842C>A , CM000679.2:g.41583842C>A | GRCh38 |
| NC_000017.10:g.39740094C>A , CM000679.1:g.39740094C>A | GRCh37 |
| NC_000017.9:g.36993620C>A | NCBI36 |
| NG_008624.1:g.8054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.845G>T MANE Select | ENSP00000167586.6:p.Arg282Leu | |
| ENST00000167586.6:c.845G>T | ENSP00000167586.6:p.Arg282Leu | |
| ENST00000476662.1:n.295G>T | ||
| NM_000526.4:c.845G>T | NP_000517.2:p.Arg282Leu | |
| NM_000526.5:c.845G>T MANE Select | NP_000517.3:p.Arg282Leu |