Linked Data
ClinVar Variation Id:
424866
ClinVar RCV Id:
RCV000487492
dbSNP Id:
rs775997446
gnomAD v4:
19-35126706-C-T
PubMed:
PMID:28318499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35126706C>T , CM000681.2:g.35126706C>T | GRCh38 |
| NC_000019.9:g.35617610C>T , CM000681.1:g.35617610C>T | GRCh37 |
| NC_000019.8:g.40309450C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310123.8:c.863G>A MANE Select | ENSP00000312273.3:p.Trp288Ter | |
| ENST00000310123.7:c.863G>A | ENSP00000312273.3:p.Trp288Ter | |
| ENST00000392225.7:c.940G>A | ENSP00000376059.3:p.Gly314Arg | |
| ENST00000493050.5:n.922G>A | ||
| ENST00000587780.5:c.598G>A | ||
| ENST00000591840.5:n.420-1840G>A | ||
| ENST00000593248.5:n.1071G>A | ||
| NM_139284.2:c.863G>A | NP_644813.1:p.Trp288Ter | |
| XM_011526594.1:c.863G>A | XP_011524896.1:p.Trp288Ter | |
| XM_011526595.1:c.347G>A | XP_011524897.1:p.Trp116Ter | |
| XM_011526595.2:c.347G>A | XP_011524897.1:p.Trp116Ter | |
| XM_017026428.1:c.347G>A | XP_016881917.1:p.Trp116Ter | |
| XM_017026429.1:c.347G>A | XP_016881918.1:p.Trp116Ter | |
| XM_017026430.2:c.347G>A | XP_016881919.1:p.Trp116Ter | |
| NM_139284.3:c.863G>A MANE Select | NP_644813.1:p.Trp288Ter |