Linked Data
ClinVar Variation Id:
200827
ClinVar RCV Id:
RCV000182141
dbSNP Id:
rs794728516
gnomAD v4:
11-2583466-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583466A>C , CM000673.2:g.2583466A>C | GRCh38 |
| NC_000011.9:g.2604696A>C , CM000673.1:g.2604696A>C | GRCh37 |
| NC_000011.8:g.2561272A>C | NCBI36 |
| NG_008935.1:g.143476A>C , LRG_287:g.143476A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.692A>C | ENSP00000434560.2:p.Lys231Thr | |
| ENST00000646564.2:c.509A>C | ENSP00000495806.2:p.Lys170Thr | |
| ENST00000155840.12:c.953A>C MANE Select | ENSP00000155840.2:p.Lys318Thr | |
| ENST00000335475.6:c.572A>C | ENSP00000334497.5:p.Lys191Thr | |
| ENST00000646564.1:c.155A>C | ENSP00000495806.1:p.Lys52Thr | |
| ENST00000155840.9:c.953A>C | ENSP00000155840.2:p.Lys318Thr | |
| ENST00000335475.5:c.572A>C | ENSP00000334497.5:p.Lys191Thr | |
| NM_000218.2:c.953A>C , LRG_287t1:c.953A>C | NP_000209.2:p.Lys318Thr | |
| NM_181798.1:c.572A>C , LRG_287t2:c.572A>C | NP_861463.1:p.Lys191Thr | |
| NM_000218.3:c.953A>C MANE Select | NP_000209.2:p.Lys318Thr |