Linked Data
ClinVar Variation Id:
5199
ClinVar RCV Id:
RCV000005509
dbSNP Id:
rs121908410
gnomAD v4:
5-14871435-G-T
PubMed:
PMID:13130483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871435G>T , CM000667.2:g.14871435G>T | GRCh38 |
| NC_000005.9:g.14871544G>T , CM000667.1:g.14871544G>T | GRCh37 |
| NC_000005.8:g.14924544G>T | NCBI36 |
| NG_008273.1:g.5344C>A | |
| NG_008273.2:g.5351C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.13C>A MANE Select | ENSP00000284268.6:p.Pro5Thr | |
| ENST00000284268.6:c.13C>A | ENSP00000284268.6:p.Pro5Thr | |
| ENST00000505140.1:c.13C>A | ENSP00000426332.1:p.Pro5Thr | |
| ENST00000513115.1:n.38C>A | ||
| NM_054027.4:c.13C>A | NP_473368.1:p.Pro5Thr | |
| XM_011514067.1:c.13C>A | XP_011512369.1:p.Pro5Thr | |
| NM_054027.5:c.13C>A | NP_473368.1:p.Pro5Thr | |
| NM_054027.6:c.13C>A MANE Select | NP_473368.1:p.Pro5Thr |