Linked Data
ClinVar Variation Id:
265182
dbSNP Id:
rs772839719
ExAC:
7:42005553 C / T
gnomAD v2:
7-42005553-C-T
gnomAD v4:
7-41965955-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41965955C>T , CM000669.2:g.41965955C>T | GRCh38 |
| NC_000007.13:g.42005553C>T , CM000669.1:g.42005553C>T | GRCh37 |
| NC_000007.12:g.41972078C>T | NCBI36 |
| NG_008434.1:g.276066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.3118G>A MANE Select | ENSP00000379258.3:p.Glu1040Lys | |
| ENST00000677288.1:c.2944G>A | ENSP00000503986.1:p.Glu982Lys | |
| ENST00000677605.1:c.3118G>A | ENSP00000503743.1:p.Glu1040Lys | |
| ENST00000678429.1:c.3118G>A | ENSP00000502957.1:p.Glu1040Lys | |
| ENST00000395925.7:c.3118G>A | ENSP00000379258.3:p.Glu1040Lys | |
| ENST00000479210.1:n.3095G>A | ||
| NM_000168.5:c.3118G>A | NP_000159.3:p.Glu1040Lys | |
| XM_005249703.1:c.3118G>A | XP_005249760.1:p.Glu1040Lys | |
| XM_005249704.2:c.3118G>A | XP_005249761.1:p.Glu1040Lys | |
| XM_011515272.1:c.3118G>A | XP_011513574.1:p.Glu1040Lys | |
| XM_011515273.1:c.3118G>A | XP_011513575.1:p.Glu1040Lys | |
| XM_011515274.1:c.2941G>A | XP_011513576.1:p.Glu981Lys | |
| XM_011515274.2:c.2941G>A | XP_011513576.1:p.Glu981Lys | |
| XM_017011997.1:c.3115G>A | XP_016867486.1:p.Glu1039Lys | |
| NM_000168.6:c.3118G>A MANE Select | NP_000159.3:p.Glu1040Lys |