Linked Data
ClinVar Variation Id:
52969
ClinVar RCV Id:
RCV001841625
dbSNP Id:
rs199472775
gnomAD v4:
11-2587619-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2587619A>T , CM000673.2:g.2587619A>T | GRCh38 |
| NC_000011.9:g.2608849A>T , CM000673.1:g.2608849A>T | GRCh37 |
| NC_000011.8:g.2565425A>T | NCBI36 |
| NG_008935.1:g.147629A>T , LRG_287:g.147629A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.821A>T | ENSP00000434560.2:p.Lys274Met | |
| ENST00000646564.2:c.638A>T | ENSP00000495806.2:p.Lys213Met | |
| ENST00000155840.12:c.1178A>T MANE Select | ENSP00000155840.2:p.Lys393Met | |
| ENST00000335475.6:c.797A>T | ENSP00000334497.5:p.Lys266Met | |
| ENST00000646564.1:c.284A>T | ENSP00000495806.1:p.Lys95Met | |
| ENST00000155840.9:c.1178A>T | ENSP00000155840.2:p.Lys393Met | |
| ENST00000335475.5:c.797A>T | ENSP00000334497.5:p.Lys266Met | |
| NM_000218.2:c.1178A>T , LRG_287t1:c.1178A>T | NP_000209.2:p.Lys393Met | |
| NM_181798.1:c.797A>T , LRG_287t2:c.797A>T | NP_861463.1:p.Lys266Met | |
| NM_000218.3:c.1178A>T MANE Select | NP_000209.2:p.Lys393Met |