Linked Data
ClinVar Variation Id:
55972
ClinVar RCV Id:
RCV000049381
dbSNP Id:
rs386833454
PubMed:
PMID:11524734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107779672T>A , CM000669.2:g.107779672T>A | GRCh38 |
| NC_000007.13:g.107420117T>A , CM000669.1:g.107420117T>A | GRCh37 |
| NC_000007.12:g.107207353T>A | NCBI36 |
| NG_008046.1:g.28562A>T , LRG_683:g.28562A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340010.10:c.1403A>T MANE Select | ENSP00000345873.5:p.Asp468Val | |
| ENST00000340010.9:c.1403A>T | ENSP00000345873.5:p.Asp468Val | |
| ENST00000379083.7:c.*1194A>T | ENSP00000368375.3:n.*1194A>T | |
| NM_000111.2:c.1403A>T , LRG_683t1:c.1403A>T | NP_000102.1:p.Asp468Val | |
| XM_011515867.1:c.1403A>T | XP_011514169.1:p.Asp468Val | |
| NM_000111.3:c.1403A>T MANE Select | NP_000102.1:p.Asp468Val |