Linked Data
ClinVar Variation Id:
337266
dbSNP Id:
rs2592551
ExAC:
2:85780131 G / A
gnomAD v2:
2-85780131-G-A
gnomAD v3:
2-85553008-G-A
gnomAD v4:
2-85553008-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553008G>A , CM000664.2:g.85553008G>A | GRCh38 |
| NC_000002.11:g.85780131G>A , CM000664.1:g.85780131G>A | GRCh37 |
| NC_000002.10:g.85633642G>A | NCBI36 |
| NG_011811.2:g.13527C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.5262C>T | ||
| ENST00000482662.2:n.3669C>T | ||
| ENST00000685865.1:n.1621C>T | ||
| ENST00000687250.1:n.1321C>T | ||
| ENST00000687995.1:n.1570C>T | ||
| ENST00000688205.1:c.*811C>T | ENSP00000509673.1:n.*811C>T | |
| ENST00000688788.1:n.1457C>T | ||
| ENST00000689276.1:c.1149C>T | ENSP00000510012.1:p.Arg383= | |
| ENST00000689576.1:c.1218C>T | ENSP00000508712.1:p.Arg406= | |
| ENST00000690108.1:c.*874C>T | ENSP00000510617.1:n.*874C>T | |
| ENST00000690468.1:c.939C>T | ENSP00000509078.1:p.Arg313= | |
| ENST00000690595.1:c.543C>T | ENSP00000508979.1:p.Arg181= | |
| ENST00000691348.1:c.1047C>T | ENSP00000509369.1:p.Arg349= | |
| ENST00000691410.1:c.*795C>T | ENSP00000508479.1:n.*795C>T | |
| ENST00000693287.1:c.534C>T | ENSP00000510264.1:p.Arg178= | |
| ENST00000693681.1:c.531C>T | ENSP00000510789.1:p.Arg177= | |
| ENST00000233838.9:c.1218C>T MANE Select | ENSP00000233838.3:p.Arg406= | |
| ENST00000233838.8:c.1218C>T | ENSP00000233838.3:p.Arg406= | |
| ENST00000430215.7:c.1047C>T | ENSP00000408045.3:p.Arg349= | |
| ENST00000465637.5:n.179-5004C>T | ||
| ENST00000473665.1:n.711C>T | ||
| ENST00000482662.1:n.635C>T | ||
| NM_000821.5:c.1218C>T | NP_000812.2:p.Arg406= | |
| NM_000821.6:c.1218C>T | NP_000812.2:p.Arg406= | |
| NM_001142269.2:c.1047C>T | NP_001135741.1:p.Arg349= | |
| NM_001142269.3:c.1047C>T | NP_001135741.1:p.Arg349= | |
| XM_005264259.3:c.1218C>T | XP_005264316.1:p.Arg406= | |
| XM_011532764.1:c.396C>T | XP_011531066.1:p.Arg132= | |
| XM_011532765.1:c.396C>T | XP_011531067.1:p.Arg132= | |
| XR_939677.1:n.1283C>T | ||
| XM_005264259.5:c.1218C>T | XP_005264316.1:p.Arg406= | |
| XM_011532764.3:c.396C>T | XP_011531066.1:p.Arg132= | |
| XM_011532765.3:c.396C>T | XP_011531067.1:p.Arg132= | |
| XM_017003803.2:c.1047C>T | XP_016859292.1:p.Arg349= | |
| XR_001738703.2:n.1283C>T | ||
| NM_000821.7:c.1218C>T MANE Select | NP_000812.2:p.Arg406= | |
| NM_001142269.4:c.1047C>T | NP_001135741.1:p.Arg349= |