Linked Data
ClinVar Variation Id:
52936
dbSNP Id:
rs199472763
gnomAD v3:
11-2583544-C-T
gnomAD v4:
11-2583544-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583544C>T , CM000673.2:g.2583544C>T | GRCh38 |
| NC_000011.9:g.2604774C>T , CM000673.1:g.2604774C>T | GRCh37 |
| NC_000011.8:g.2561350C>T | NCBI36 |
| NG_008935.1:g.143554C>T , LRG_287:g.143554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.770C>T | ENSP00000434560.2:p.Ala257Val | |
| ENST00000646564.2:c.587C>T | ENSP00000495806.2:p.Ala196Val | |
| ENST00000155840.12:c.1031C>T MANE Select | ENSP00000155840.2:p.Ala344Val | |
| ENST00000335475.6:c.650C>T | ENSP00000334497.5:p.Ala217Val | |
| ENST00000646564.1:c.233C>T | ENSP00000495806.1:p.Ala78Val | |
| ENST00000155840.9:c.1031C>T | ENSP00000155840.2:p.Ala344Val | |
| ENST00000335475.5:c.650C>T | ENSP00000334497.5:p.Ala217Val | |
| NM_000218.2:c.1031C>T , LRG_287t1:c.1031C>T | NP_000209.2:p.Ala344Val | |
| NM_181798.1:c.650C>T , LRG_287t2:c.650C>T | NP_861463.1:p.Ala217Val | |
| NM_000218.3:c.1031C>T MANE Select | NP_000209.2:p.Ala344Val |