Linked Data
ClinVar Variation Id:
64626
dbSNP Id:
rs397514263
ExAC:
2:212248444 G / A
gnomAD v2:
2-212248444-G-A
gnomAD v3:
2-211383719-G-A
gnomAD v4:
2-211383719-G-A
PubMed:
PMID:24119685
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.211383719G>A , CM000664.2:g.211383719G>A | GRCh38 |
| NC_000002.11:g.212248444G>A , CM000664.1:g.212248444G>A | GRCh37 |
| NC_000002.10:g.211956689G>A | NCBI36 |
| NG_011805.1:g.1159909C>T | |
| NG_011805.2:g.1159910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260943.11:c.3745C>T | ENSP00000260943.7:p.Arg1249Trp | |
| ENST00000342788.9:c.3823C>T MANE Select | ENSP00000342235.4:p.Arg1275Trp | |
| ENST00000402597.6:c.3697C>T | ENSP00000385565.3:p.Arg1233Trp | |
| ENST00000342788.8:c.3823C>T | ENSP00000342235.4:p.Arg1275Trp | |
| ENST00000402597.5:c.3646C>T | ENSP00000385565.2:p.Arg1216Trp | |
| ENST00000436443.5:c.3775C>T | ENSP00000403204.1:p.Arg1259Trp | |
| NM_001042599.1:c.3775C>T | NP_001036064.1:p.Arg1259Trp | |
| NM_005235.2:c.3823C>T | NP_005226.1:p.Arg1275Trp | |
| XM_005246375.1:c.3820C>T | XP_005246432.1:p.Arg1274Trp | |
| XM_005246376.1:c.3793C>T | XP_005246433.1:p.Arg1265Trp | |
| XM_005246377.1:c.3745C>T | XP_005246434.1:p.Arg1249Trp | |
| XM_006712364.1:c.3868C>T | XP_006712427.1:p.Arg1290Trp | |
| XM_005246376.3:c.3793C>T | XP_005246433.1:p.Arg1265Trp | |
| XM_005246377.3:c.3745C>T | XP_005246434.1:p.Arg1249Trp | |
| XM_006712364.3:c.3868C>T | XP_006712427.1:p.Arg1290Trp | |
| XM_017003577.2:c.3946C>T | XP_016859066.1:p.Arg1316Trp | |
| XM_017003578.2:c.3901C>T | XP_016859067.1:p.Arg1301Trp | |
| XM_017003579.2:c.3898C>T | XP_016859068.1:p.Arg1300Trp | |
| XM_017003580.2:c.3871C>T | XP_016859069.1:p.Arg1291Trp | |
| XM_017003581.2:c.3853C>T | XP_016859070.1:p.Arg1285Trp | |
| XM_017003582.1:c.3247C>T | XP_016859071.1:p.Arg1083Trp | |
| NM_005235.3:c.3823C>T MANE Select | NP_005226.1:p.Arg1275Trp |