Linked Data
ClinVar Variation Id:
424869
ClinVar RCV Id:
RCV000487493
dbSNP Id:
rs1064797095
gnomAD v4:
19-35126265-C-A
PubMed:
PMID:28318499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35126265C>A , CM000681.2:g.35126265C>A | GRCh38 |
| NC_000019.9:g.35617169C>A , CM000681.1:g.35617169C>A | GRCh37 |
| NC_000019.8:g.40309009C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310123.8:c.1299+5G>T MANE Select | ENSP00000312273.3:n.1299+5G>T | |
| ENST00000310123.7:c.1299+5G>T | ENSP00000312273.3:n.1299+5G>T | |
| ENST00000392225.7:c.1376+5G>T | ENSP00000376059.3:n.1376+5G>T | |
| ENST00000493050.5:n.1358+5G>T | ||
| ENST00000587780.5:c.1039G>T | ||
| ENST00000591840.5:n.420-1399G>T | ||
| NM_139284.2:c.1299+5G>T | NP_644813.1:n.1299+5G>T | |
| XM_011526594.1:c.1299+5G>T | XP_011524896.1:n.1299+5G>T | |
| XM_011526595.1:c.783+5G>T | XP_011524897.1:n.783+5G>T | |
| XM_011526595.2:c.783+5G>T | XP_011524897.1:n.783+5G>T | |
| XM_017026428.1:c.783+5G>T | XP_016881917.1:n.783+5G>T | |
| XM_017026429.1:c.783+5G>T | XP_016881918.1:n.783+5G>T | |
| XM_017026430.2:c.783+5G>T | XP_016881919.1:n.783+5G>T | |
| NM_139284.3:c.1299+5G>T MANE Select | NP_644813.1:n.1299+5G>T |