Linked Data
ClinVar Variation Id:
159705
dbSNP Id:
rs115958467
ExAC:
17:16203290 C / A
gnomAD v2:
17-16203290-C-A
gnomAD v3:
17-16299976-C-A
gnomAD v4:
17-16299976-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16299976C>A , CM000679.2:g.16299976C>A | GRCh38 |
| NC_000017.10:g.16203290C>A , CM000679.1:g.16203290C>A | GRCh37 |
| NC_000017.9:g.16144015C>A | NCBI36 |
| NG_032651.1:g.87782C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225609.10:c.424C>A MANE Select | ENSP00000225609.5:p.Leu142Met | |
| ENST00000225609.9:c.424C>A | ENSP00000225609.5:p.Leu142Met | |
| ENST00000395844.8:c.424C>A | ENSP00000379185.3:p.Leu142Met | |
| ENST00000477745.5:n.422C>A | ||
| ENST00000498772.6:n.441C>A | ||
| ENST00000581006.5:c.424C>A | ENSP00000462432.1:p.Leu142Met | |
| ENST00000584797.5:c.424C>A | ENSP00000463540.1:p.Leu142Met | |
| ENST00000585034.5:c.*18C>A | ENSP00000464424.1:n.*18C>A | |
| ENST00000607144.4:n.460C>A | ||
| NM_004278.3:c.424C>A | NP_004269.1:p.Leu142Met | |
| XM_011524080.1:c.424C>A | XP_011522382.1:p.Leu142Met | |
| XR_243571.2:n.442C>A | ||
| XR_429826.2:n.442C>A | ||
| XM_011524080.2:c.424C>A | XP_011522382.1:p.Leu142Met | |
| XM_017025349.1:c.424C>A | XP_016880838.1:p.Leu142Met | |
| XM_017025350.1:c.424C>A | XP_016880839.1:p.Leu142Met | |
| XM_017025351.1:c.424C>A | XP_016880840.1:p.Leu142Met | |
| XM_017025352.1:c.424C>A | XP_016880841.1:p.Leu142Met | |
| XM_017025353.1:c.424C>A | XP_016880842.1:p.Leu142Met | |
| XM_017025354.1:c.424C>A | XP_016880843.1:p.Leu142Met | |
| XM_017025355.1:c.424C>A | XP_016880844.1:p.Leu142Met | |
| XM_017025356.1:c.424C>A | XP_016880845.1:p.Leu142Met | |
| NM_004278.4:c.424C>A MANE Select | NP_004269.1:p.Leu142Met |