Linked Data
ClinVar Variation Id:
3422
ClinVar RCV Id:
RCV000003591
dbSNP Id:
rs121434230
gnomAD v4:
1-209788638-G-A
PubMed:
PMID:14618417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209788638G>A , CM000663.2:g.209788638G>A | GRCh38 |
| NC_000001.10:g.209961983G>A , CM000663.1:g.209961983G>A | GRCh37 |
| NC_000001.9:g.208028606G>A | NCBI36 |
| NG_007081.2:g.22497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1186C>T | ENSP00000512426.1:p.Pro396Ser | |
| ENST00000696134.1:c.*613C>T | ENSP00000512427.1:n.*613C>T | |
| ENST00000367021.8:c.1186C>T MANE Select | ENSP00000355988.3:p.Pro396Ser | |
| ENST00000643798.1:c.*696C>T | ENSP00000496669.1:n.*696C>T | |
| ENST00000367021.7:c.1186C>T | ENSP00000355988.3:p.Pro396Ser | |
| ENST00000542854.5:c.901C>T | ENSP00000440532.1:p.Pro301Ser | |
| NM_001206696.1:c.901C>T | NP_001193625.1:p.Pro301Ser | |
| NM_006147.3:c.1186C>T | NP_006138.1:p.Pro396Ser | |
| NM_006147.4:c.1186C>T MANE Select | NP_006138.1:p.Pro396Ser | |
| NM_001206696.2:c.901C>T | NP_001193625.1:p.Pro301Ser |