Linked Data
ClinVar Variation Id:
50318
ClinVar RCV Id:
RCV003151741
dbSNP Id:
rs398122936
PubMed:
PMID:22442437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431727C>G , CM000663.2:g.229431727C>G | GRCh38 |
| NC_000001.10:g.229567474C>G , CM000663.1:g.229567474C>G | GRCh37 |
| NC_000001.9:g.227634097C>G | NCBI36 |
| NG_006672.1:g.7370G>C , LRG_429:g.7370G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.984G>C | ENSP00000355644.4:p.Lys328Asn | |
| ENST00000684723.1:c.849G>C | ENSP00000508084.1:p.Lys283Asn | |
| ENST00000366683.3:c.615G>C | ENSP00000355644.3:p.Lys205Asn | |
| ENST00000366684.7:c.984G>C MANE Select | ENSP00000355645.3:p.Lys328Asn | |
| NM_001100.3:c.984G>C , LRG_429t1:c.984G>C | NP_001091.1:p.Lys328Asn | |
| NM_001100.4:c.984G>C MANE Select | NP_001091.1:p.Lys328Asn |