Linked Data
ClinVar Variation Id:
193641
dbSNP Id:
rs147388442
ExAC:
11:68177483 C / T
gnomAD v2:
11-68177483-C-T
gnomAD v3:
11-68410015-C-T
gnomAD v4:
11-68410015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68410015C>T , CM000673.2:g.68410015C>T | GRCh38 |
| NC_000011.9:g.68177483C>T , CM000673.1:g.68177483C>T | GRCh37 |
| NC_000011.8:g.67934059C>T | NCBI36 |
| NG_015835.1:g.102376C>T | |
| NG_015835.2:g.102376C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.2193C>T MANE Select | ENSP00000294304.6:p.Asn731= | |
| ENST00000294304.11:c.2193C>T | ENSP00000294304.6:p.Asn731= | |
| ENST00000529993.5:c.*799C>T | ENSP00000436652.1:n.*799C>T | |
| NM_001291902.1:c.450C>T | NP_001278831.1:p.Asn150= | |
| NM_002335.3:c.2193C>T | NP_002326.2:p.Asn731= | |
| XM_005273994.2:c.2193C>T | XP_005274051.1:p.Asn731= | |
| XM_011545029.1:c.2220C>T | XP_011543331.1:p.Asn740= | |
| XM_011545030.1:c.2220C>T | XP_011543332.1:p.Asn740= | |
| XM_011545031.1:c.2220C>T | XP_011543333.1:p.Asn740= | |
| XR_949925.1:n.2235C>T | ||
| XR_949926.1:n.2235C>T | ||
| XM_017017735.1:c.450C>T | XP_016873224.1:p.Asn150= | |
| XR_001747874.1:n.2235C>T | ||
| XR_949925.2:n.2235C>T | ||
| XR_949926.2:n.2235C>T | ||
| NM_002335.4:c.2193C>T MANE Select | NP_002326.2:p.Asn731= | |
| NM_001291902.2:c.450C>T | NP_001278831.1:p.Asn150= |