Linked Data
ClinVar Variation Id:
302502
dbSNP Id:
rs140770089
ExAC:
11:116706766 C / A
gnomAD v2:
11-116706766-C-A
gnomAD v3:
11-116836050-C-A
gnomAD v4:
11-116836050-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836050C>A , CM000673.2:g.116836050C>A | GRCh38 |
| NC_000011.9:g.116706766C>A , CM000673.1:g.116706766C>A | GRCh37 |
| NC_000011.8:g.116211976C>A | NCBI36 |
| NG_012021.1:g.6573G>T , LRG_767:g.6573G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.562G>T MANE Select | ENSP00000236850.3:p.Ala188Ser | |
| ENST00000236850.4:c.562G>T | ENSP00000236850.3:p.Ala188Ser | |
| ENST00000359492.6:c.562G>T | ENSP00000352471.2:p.Ala188Ser | |
| ENST00000375320.5:c.562G>T | ENSP00000364469.1:p.Ala188Ser | |
| ENST00000375323.5:c.562G>T | ENSP00000364472.1:p.Ala188Ser | |
| ENST00000375329.6:c.496G>T | ENSP00000364478.2:p.Ala166Ser | |
| NM_000039.1:c.562G>T , LRG_767t1:c.562G>T | NP_000030.1:p.Ala188Ser | |
| XM_005271539.2:c.562G>T | XP_005271596.1:p.Ala188Ser | |
| XM_005271540.1:c.562G>T | XP_005271597.1:p.Ala188Ser | |
| NM_000039.2:c.562G>T | NP_000030.1:p.Ala188Ser | |
| NM_001318017.1:c.562G>T | NP_001304946.1:p.Ala188Ser | |
| NM_001318018.1:c.562G>T | NP_001304947.1:p.Ala188Ser | |
| NM_001318021.1:c.235G>T | NP_001304950.1:p.Ala79Ser | |
| NM_001318017.2:c.562G>T | NP_001304946.1:p.Ala188Ser | |
| NM_001318018.2:c.562G>T | NP_001304947.1:p.Ala188Ser | |
| NM_000039.3:c.562G>T MANE Select | NP_000030.1:p.Ala188Ser |