Linked Data
ClinVar Variation Id:
40290
ClinVar RCV Id:
RCV000033260
dbSNP Id:
rs149645175
gnomAD v4:
11-68448822-C-T
PubMed:
PMID:20034086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68448822C>T , CM000673.2:g.68448822C>T | GRCh38 |
| NC_000011.9:g.68216290C>T , CM000673.1:g.68216290C>T | GRCh37 |
| NC_000011.8:g.67972866C>T | NCBI36 |
| NG_015835.1:g.141183C>T | |
| NG_015835.2:g.141183C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.4600C>T MANE Select | ENSP00000294304.6:p.Arg1534Ter | |
| ENST00000294304.11:c.4600C>T | ENSP00000294304.6:p.Arg1534Ter | |
| ENST00000529481.1:n.191C>T | ||
| ENST00000529702.1:c.270C>T | ||
| ENST00000529993.5:c.*3206C>T | ENSP00000436652.1:n.*3206C>T | |
| NM_001291902.1:c.2857C>T | NP_001278831.1:p.Arg953Ter | |
| NM_002335.3:c.4600C>T | NP_002326.2:p.Arg1534Ter | |
| XM_005273994.2:c.4714C>T | XP_005274051.1:p.Arg1572Ter | |
| XM_011545029.1:c.4741C>T | XP_011543331.1:p.Arg1581Ter | |
| XM_011545030.1:c.4627C>T | XP_011543332.1:p.Arg1543Ter | |
| XM_011545031.1:c.4757C>T | XP_011543333.1:p.Ser1586Leu | |
| XR_949925.1:n.4987C>T | ||
| XR_949926.1:n.5003C>T | ||
| XM_017017735.1:c.2971C>T | XP_016873224.1:p.Arg991Ter | |
| XM_017017736.1:c.2254C>T | XP_016873225.1:p.Arg752Ter | |
| XR_949925.2:n.4987C>T | ||
| XR_949926.2:n.5003C>T | ||
| NM_002335.4:c.4600C>T MANE Select | NP_002326.2:p.Arg1534Ter | |
| NM_001291902.2:c.2857C>T | NP_001278831.1:p.Arg953Ter |