Linked Data
ClinVar Variation Id:
1007117
ClinVar RCV Id:
RCV001304257
dbSNP Id:
rs2084997386
gnomAD v3:
19-1495387-C-T
gnomAD v4:
19-1495387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1495387C>T , CM000681.2:g.1495387C>T | GRCh38 |
| NC_000019.9:g.1495386C>T , CM000681.1:g.1495386C>T | GRCh37 |
| NC_000019.8:g.1446386C>T | NCBI36 |
| NG_055254.1:g.9383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233596.8:c.209C>T MANE Select | ENSP00000233596.2:p.Ser70Leu | |
| ENST00000395479.10:c.209C>T MANE Plus Clinical | ENSP00000378861.5:p.Ser70Leu | |
| ENST00000233596.7:c.209C>T | ENSP00000233596.2:p.Ser70Leu | |
| ENST00000395479.8:c.25C>T | ||
| ENST00000591735.2:n.313C>T | ||
| NM_138393.1:c.209C>T | NP_612402.1:p.Ser70Leu | |
| NM_001329556.2:c.209C>T | NP_001316485.1:p.Ser70Leu | |
| NM_138393.3:c.209C>T | NP_612402.1:p.Ser70Leu | |
| NM_138393.4:c.209C>T MANE Select | NP_612402.1:p.Ser70Leu | |
| NM_001329556.3:c.209C>T MANE Plus Clinical | NP_001316485.1:p.Ser70Leu |