Linked Data
ClinVar Variation Id:
3358
dbSNP Id:
rs121434239
gnomAD v4:
17-1650909-G-T
PubMed:
PMID:11468273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1650909G>T , CM000679.2:g.1650909G>T | GRCh38 |
| NC_000017.10:g.1554203G>T , CM000679.1:g.1554203G>T | GRCh37 |
| NC_000017.9:g.1500953G>T | NCBI36 |
| NG_009118.1:g.38974C>A | |
| NG_033061.1:g.4190C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6721C>A | ENSP00000460849.2:p.Pro2241Thr | |
| ENST00000703537.1:c.2649C>A | ||
| ENST00000703538.1:c.*6624C>A | ENSP00000515361.1:n.*6624C>A | |
| ENST00000703539.1:n.3215C>A | ||
| ENST00000703540.1:c.6754C>A | ENSP00000515362.1:p.Pro2252Thr | |
| ENST00000703541.1:c.6766C>A | ENSP00000515363.1:p.Pro2256Thr | |
| ENST00000304992.11:c.6901C>A MANE Select | ENSP00000304350.6:p.Pro2301Thr | |
| ENST00000304992.10:c.6901C>A | ENSP00000304350.6:p.Pro2301Thr | |
| ENST00000571958.1:c.163-63C>A | ||
| ENST00000572621.5:c.6901C>A | ENSP00000460348.1:p.Pro2301Thr | |
| ENST00000572723.1:n.890C>A | ||
| NM_006445.3:c.6901C>A | NP_006436.3:p.Pro2301Thr | |
| XM_024450537.1:c.6901C>A | XP_024306305.1:p.Pro2301Thr | |
| NM_006445.4:c.6901C>A MANE Select | NP_006436.3:p.Pro2301Thr |