Linked Data
ClinVar Variation Id:
2821247
ClinVar RCV Id:
RCV003711548
dbSNP Id:
rs989864153
gnomAD v3:
11-68406592-C-A
gnomAD v4:
11-68406592-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68406592C>A , CM000673.2:g.68406592C>A | GRCh38 |
| NC_000011.9:g.68174060C>A , CM000673.1:g.68174060C>A | GRCh37 |
| NC_000011.8:g.67930636C>A | NCBI36 |
| NG_015835.1:g.98953C>A | |
| NG_015835.2:g.98953C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.1870C>A MANE Select | ENSP00000294304.6:p.Arg624= | |
| ENST00000294304.11:c.1870C>A | ENSP00000294304.6:p.Arg624= | |
| ENST00000529993.5:c.*476C>A | ENSP00000436652.1:n.*476C>A | |
| NM_001291902.1:c.127C>A | NP_001278831.1:p.Arg43= | |
| NM_002335.3:c.1870C>A | NP_002326.2:p.Arg624= | |
| XM_005273994.2:c.1870C>A | XP_005274051.1:p.Arg624= | |
| XM_011545029.1:c.1897C>A | XP_011543331.1:p.Arg633= | |
| XM_011545030.1:c.1897C>A | XP_011543332.1:p.Arg633= | |
| XM_011545031.1:c.1897C>A | XP_011543333.1:p.Arg633= | |
| XR_949925.1:n.1912C>A | ||
| XR_949926.1:n.1912C>A | ||
| XM_017017735.1:c.127C>A | XP_016873224.1:p.Arg43= | |
| XR_001747874.1:n.1912C>A | ||
| XR_949925.2:n.1912C>A | ||
| XR_949926.2:n.1912C>A | ||
| NM_002335.4:c.1870C>A MANE Select | NP_002326.2:p.Arg624= | |
| NM_001291902.2:c.127C>A | NP_001278831.1:p.Arg43= |