Linked Data
ClinVar Variation Id:
337268
dbSNP Id:
rs699664
ExAC:
2:85780536 C / T
gnomAD v2:
2-85780536-C-T
gnomAD v3:
2-85553413-C-T
gnomAD v4:
2-85553413-C-T
PubMed:
PMID:17029979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553413C>T , CM000664.2:g.85553413C>T | GRCh38 |
| NC_000002.11:g.85780536C>T , CM000664.1:g.85780536C>T | GRCh37 |
| NC_000002.10:g.85634047C>T | NCBI36 |
| NG_011811.2:g.13122G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.5018G>A | ||
| ENST00000482662.2:n.3425G>A | ||
| ENST00000685865.1:n.1377G>A | ||
| ENST00000687250.1:n.1077G>A | ||
| ENST00000687995.1:n.1326G>A | ||
| ENST00000688205.1:c.*567G>A | ENSP00000509673.1:n.*567G>A | |
| ENST00000688788.1:n.1213G>A | ||
| ENST00000689276.1:c.905G>A | ENSP00000510012.1:p.Arg302Gln | |
| ENST00000689576.1:c.974G>A | ENSP00000508712.1:p.Arg325Gln | |
| ENST00000690108.1:c.*630G>A | ENSP00000510617.1:n.*630G>A | |
| ENST00000690468.1:c.695G>A | ENSP00000509078.1:p.Arg232Gln | |
| ENST00000690595.1:c.299G>A | ENSP00000508979.1:p.Arg100Gln | |
| ENST00000691348.1:c.803G>A | ENSP00000509369.1:p.Arg268Gln | |
| ENST00000691410.1:c.*551G>A | ENSP00000508479.1:n.*551G>A | |
| ENST00000693287.1:c.290G>A | ENSP00000510264.1:p.Arg97Gln | |
| ENST00000693681.1:c.287G>A | ENSP00000510789.1:p.Arg96Gln | |
| ENST00000233838.9:c.974G>A MANE Select | ENSP00000233838.3:p.Arg325Gln | |
| ENST00000233838.8:c.974G>A | ENSP00000233838.3:p.Arg325Gln | |
| ENST00000430215.7:c.803G>A | ENSP00000408045.3:p.Arg268Gln | |
| ENST00000465637.5:n.179-5409G>A | ||
| ENST00000473665.1:n.467G>A | ||
| ENST00000482662.1:n.391G>A | ||
| NM_000821.5:c.974G>A | NP_000812.2:p.Arg325Gln | |
| NM_000821.6:c.974G>A | NP_000812.2:p.Arg325Gln | |
| NM_001142269.2:c.803G>A | NP_001135741.1:p.Arg268Gln | |
| NM_001142269.3:c.803G>A | NP_001135741.1:p.Arg268Gln | |
| XM_005264259.3:c.974G>A | XP_005264316.1:p.Arg325Gln | |
| XM_011532764.1:c.152G>A | XP_011531066.1:p.Arg51Gln | |
| XM_011532765.1:c.152G>A | XP_011531067.1:p.Arg51Gln | |
| XR_939677.1:n.1039G>A | ||
| XM_005264259.5:c.974G>A | XP_005264316.1:p.Arg325Gln | |
| XM_011532764.3:c.152G>A | XP_011531066.1:p.Arg51Gln | |
| XM_011532765.3:c.152G>A | XP_011531067.1:p.Arg51Gln | |
| XM_017003803.2:c.803G>A | XP_016859292.1:p.Arg268Gln | |
| XR_001738703.2:n.1039G>A | ||
| NM_000821.7:c.974G>A MANE Select | NP_000812.2:p.Arg325Gln | |
| NM_001142269.4:c.803G>A | NP_001135741.1:p.Arg268Gln |