Linked Data
ClinVar Variation Id:
254127
ClinVar RCV Id:
RCV000240603
dbSNP Id:
rs886037888
gnomAD v4:
17-41930838-G-T
PubMed:
PMID:27486780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41930838G>T , CM000679.2:g.41930838G>T | GRCh38 |
| NC_000017.10:g.40087091G>T , CM000679.1:g.40087091G>T | GRCh37 |
| NC_000017.9:g.37340617G>T | NCBI36 |
| NG_047031.1:g.4705C>A | |
| NG_053115.1:g.5245G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377540.6:c.114+1G>T MANE Select | ENSP00000478589.1:n.114+1G>T | |
| ENST00000377540.5:c.114+1G>T | ENSP00000478589.1:n.114+1G>T | |
| ENST00000591658.5:c.114+1G>T | ENSP00000477931.1:n.114+1G>T | |
| ENST00000593239.5:c.114+1G>T | ENSP00000484975.1:n.114+1G>T | |
| ENST00000617460.1:c.114+1G>T | ENSP00000481958.1:n.114+1G>T | |
| NM_031421.3:c.114+1G>T | NP_113609.1:n.114+1G>T | |
| NR_110662.1:n.215+1G>T | ||
| XM_011525323.1:c.-298+1G>T | XP_011523625.1:n.-298+1G>T | |
| XM_011525324.1:c.114+1G>T | XP_011523626.1:n.114+1G>T | |
| NM_001350319.1:c.114+1G>T | NP_001337248.1:n.114+1G>T | |
| NM_031421.4:c.114+1G>T | NP_113609.1:n.114+1G>T | |
| NR_110662.2:n.244+1G>T | ||
| NR_146621.1:n.244+1G>T | ||
| NR_146622.1:n.244+1G>T | ||
| NM_031421.5:c.114+1G>T MANE Select | NP_113609.1:n.114+1G>T | |
| NM_001350319.2:c.114+1G>T | NP_001337248.1:n.114+1G>T | |
| NR_110662.3:n.221+1G>T | ||
| NR_146621.2:n.221+1G>T | ||
| NR_146622.2:n.221+1G>T |