Linked Data
dbSNP Id:
rs753084702
ExAC:
6:25813172 G / A
gnomAD v2:
6-25813172-G-A
gnomAD v4:
6-25812944-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25812944G>A , CM000668.2:g.25812944G>A | GRCh38 |
| NC_000006.11:g.25813172G>A , CM000668.1:g.25813172G>A | GRCh37 |
| NC_000006.10:g.25921151G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244527.10:c.784C>T MANE Select | ENSP00000244527.4:p.Leu262Phe | |
| ENST00000244527.8:c.784C>T | ENSP00000244527.4:p.Leu262Phe | |
| ENST00000377886.6:c.*35C>T | ENSP00000367118.2:n.*35C>T | |
| ENST00000468082.1:c.735+151C>T | ENSP00000420546.1:n.735+151C>T | |
| ENST00000476801.5:c.784C>T | ENSP00000420614.1:p.Leu262Phe | |
| NM_005074.3:c.784C>T | NP_005065.2:p.Leu262Phe | |
| XM_011514818.1:c.784C>T | XP_011513120.1:p.Leu262Phe | |
| XM_011514819.1:c.697C>T | XP_011513121.1:p.Leu233Phe | |
| XM_011514820.1:c.735+151C>T | XP_011513122.1:n.735+151C>T | |
| XM_011514821.1:c.571C>T | XP_011513123.1:p.Leu191Phe | |
| XM_011514818.2:c.934C>T | XP_011513120.2:p.Leu312Phe | |
| XM_011514819.2:c.847C>T | XP_011513121.2:p.Leu283Phe | |
| XM_011514820.2:c.885+151C>T | XP_011513122.2:n.885+151C>T | |
| XM_011514821.2:c.571C>T | XP_011513123.1:p.Leu191Phe | |
| XM_017011199.1:c.934C>T | XP_016866688.1:p.Leu312Phe | |
| XM_017011200.1:c.934C>T | XP_016866689.1:p.Leu312Phe | |
| XM_017011201.2:c.934C>T | XP_016866690.1:p.Leu312Phe | |
| XM_017011202.1:c.850C>T | XP_016866691.1:p.Leu284Phe | |
| NM_005074.5:c.784C>T MANE Select | NP_005065.2:p.Leu262Phe |