Linked Data
ClinVar Variation Id:
1041924
ClinVar RCV Id:
RCV001345799
dbSNP Id:
rs149645175
ExAC:
11:68216290 C / G
gnomAD v2:
11-68216290-C-G
gnomAD v3:
11-68448822-C-G
gnomAD v4:
11-68448822-C-G
COSMIC:
COSM2042768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68448822C>G , CM000673.2:g.68448822C>G | GRCh38 |
| NC_000011.9:g.68216290C>G , CM000673.1:g.68216290C>G | GRCh37 |
| NC_000011.8:g.67972866C>G | NCBI36 |
| NG_015835.1:g.141183C>G | |
| NG_015835.2:g.141183C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.4600C>G MANE Select | ENSP00000294304.6:p.Arg1534Gly | |
| ENST00000294304.11:c.4600C>G | ENSP00000294304.6:p.Arg1534Gly | |
| ENST00000529481.1:n.191C>G | ||
| ENST00000529702.1:c.270C>G | ||
| ENST00000529993.5:c.*3206C>G | ENSP00000436652.1:n.*3206C>G | |
| NM_001291902.1:c.2857C>G | NP_001278831.1:p.Arg953Gly | |
| NM_002335.3:c.4600C>G | NP_002326.2:p.Arg1534Gly | |
| XM_005273994.2:c.4714C>G | XP_005274051.1:p.Arg1572Gly | |
| XM_011545029.1:c.4741C>G | XP_011543331.1:p.Arg1581Gly | |
| XM_011545030.1:c.4627C>G | XP_011543332.1:p.Arg1543Gly | |
| XM_011545031.1:c.4757C>G | XP_011543333.1:p.Ser1586Trp | |
| XR_949925.1:n.4987C>G | ||
| XR_949926.1:n.5003C>G | ||
| XM_017017735.1:c.2971C>G | XP_016873224.1:p.Arg991Gly | |
| XM_017017736.1:c.2254C>G | XP_016873225.1:p.Arg752Gly | |
| XR_949925.2:n.4987C>G | ||
| XR_949926.2:n.5003C>G | ||
| NM_002335.4:c.4600C>G MANE Select | NP_002326.2:p.Arg1534Gly | |
| NM_001291902.2:c.2857C>G | NP_001278831.1:p.Arg953Gly |