Linked Data
ClinVar Variation Id:
750950
dbSNP Id:
rs140389200
ExAC:
11:119548433 A / G
gnomAD v2:
11-119548433-A-G
gnomAD v3:
11-119677723-A-G
gnomAD v4:
11-119677723-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119677723A>G , CM000673.2:g.119677723A>G | GRCh38 |
| NC_000011.9:g.119548433A>G , CM000673.1:g.119548433A>G | GRCh37 |
| NC_000011.8:g.119053643A>G | NCBI36 |
| NG_013083.1:g.56003T>C | |
| NG_013083.2:g.56003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531468.2:c.565T>C | ENSP00000513010.1:p.Leu189= | |
| ENST00000264025.8:c.565T>C MANE Select | ENSP00000264025.3:p.Leu189= | |
| ENST00000264025.7:c.565T>C | ENSP00000264025.3:p.Leu189= | |
| ENST00000340882.2:c.565T>C | ENSP00000345289.2:p.Leu189= | |
| ENST00000341398.6:c.565T>C | ENSP00000344974.2:p.Leu189= | |
| ENST00000524510.1:n.539T>C | ||
| NM_002855.4:c.565T>C | NP_002846.3:p.Leu189= | |
| NM_203285.1:c.565T>C | NP_976030.1:p.Leu189= | |
| NM_203286.1:c.565T>C | NP_976031.1:p.Leu189= | |
| NM_002855.5:c.565T>C MANE Select | NP_002846.3:p.Leu189= | |
| NM_203285.2:c.565T>C | NP_976030.1:p.Leu189= | |
| NM_203286.2:c.565T>C | NP_976031.1:p.Leu189= |