Linked Data
ClinVar Variation Id:
10286
ClinVar RCV Id:
RCV000010999
dbSNP Id:
rs28933678
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904518C>T , CM000685.2:g.154904518C>T | GRCh38 |
| NC_000023.10:g.154132793C>T , CM000685.1:g.154132793C>T | GRCh37 |
| NC_000023.9:g.153785987C>T | NCBI36 |
| NG_011403.1:g.123206G>A | |
| NG_011403.2:g.123206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5593G>A MANE Select | ENSP00000353393.4:p.Asp1865Asn | |
| ENST00000360256.8:c.5593G>A | ENSP00000353393.4:p.Asp1865Asn | |
| NM_000132.3:c.5593G>A | NP_000123.1:p.Asp1865Asn | |
| XM_011531126.1:c.5488G>A | XP_011529428.1:p.Asp1830Asn | |
| NM_000132.4:c.5593G>A MANE Select | NP_000123.1:p.Asp1865Asn |