Linked Data
ClinVar Variation Id:
374992
ClinVar RCV Id:
RCV000415637
dbSNP Id:
rs1057519317
gnomAD v2:
19-1496318-C-T
gnomAD v4:
19-1496319-C-T
PubMed:
PMID:27889058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1496319C>T , CM000681.2:g.1496319C>T | GRCh38 |
| NC_000019.9:g.1496318C>T , CM000681.1:g.1496318C>T | GRCh37 |
| NC_000019.8:g.1447318C>T | NCBI36 |
| NG_055254.1:g.10315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.383C>T MANE Select | ENSP00000233596.2:p.Pro128Leu | |
| ENST00000395479.10:c.383C>T MANE Plus Clinical | ENSP00000378861.5:p.Pro128Leu | |
| ENST00000233596.7:c.383C>T | ENSP00000233596.2:p.Pro128Leu | |
| ENST00000395479.8:c.199C>T | ||
| ENST00000395484.4:c.167C>T | ENSP00000378865.4:p.Pro56Leu | |
| NM_138393.1:c.383C>T | NP_612402.1:p.Pro128Leu | |
| NM_001329556.2:c.383C>T | NP_001316485.1:p.Pro128Leu | |
| NM_138393.3:c.383C>T | NP_612402.1:p.Pro128Leu | |
| NM_138393.4:c.383C>T MANE Select | NP_612402.1:p.Pro128Leu | |
| NM_001329556.3:c.383C>T MANE Plus Clinical | NP_001316485.1:p.Pro128Leu |