Linked Data
ClinVar Variation Id:
5198
ClinVar RCV Id:
RCV000005508
dbSNP Id:
rs121908409
gnomAD v4:
5-14871434-G-A
PubMed:
PMID:12297989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871434G>A , CM000667.2:g.14871434G>A | GRCh38 |
| NC_000005.9:g.14871543G>A , CM000667.1:g.14871543G>A | GRCh37 |
| NC_000005.8:g.14924543G>A | NCBI36 |
| NG_008273.1:g.5345C>T | |
| NG_008273.2:g.5352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.14C>T MANE Select | ENSP00000284268.6:p.Pro5Leu | |
| ENST00000284268.6:c.14C>T | ENSP00000284268.6:p.Pro5Leu | |
| ENST00000505140.1:c.14C>T | ENSP00000426332.1:p.Pro5Leu | |
| ENST00000513115.1:n.39C>T | ||
| NM_054027.4:c.14C>T | NP_473368.1:p.Pro5Leu | |
| XM_011514067.1:c.14C>T | XP_011512369.1:p.Pro5Leu | |
| NM_054027.5:c.14C>T | NP_473368.1:p.Pro5Leu | |
| NM_054027.6:c.14C>T MANE Select | NP_473368.1:p.Pro5Leu |