Linked Data
ClinVar Variation Id:
424867
ClinVar RCV Id:
RCV000487486
dbSNP Id:
rs1064797093
PubMed:
PMID:28318499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35126848C>G , CM000681.2:g.35126848C>G | GRCh38 |
| NC_000019.9:g.35617752C>G , CM000681.1:g.35617752C>G | GRCh37 |
| NC_000019.8:g.40309592C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310123.8:c.793+5G>C MANE Select | ENSP00000312273.3:n.793+5G>C | |
| ENST00000310123.7:c.793+5G>C | ENSP00000312273.3:n.793+5G>C | |
| ENST00000392225.7:c.798G>C | ENSP00000376059.3:p.Glu266Asp | |
| ENST00000493050.5:n.852+5G>C | ||
| ENST00000587780.5:c.528+5G>C | ||
| ENST00000591840.5:n.420-1982G>C | ||
| ENST00000593248.5:n.929G>C | ||
| NM_139284.2:c.793+5G>C | NP_644813.1:n.793+5G>C | |
| XM_011526594.1:c.793+5G>C | XP_011524896.1:n.793+5G>C | |
| XM_011526595.1:c.277+5G>C | XP_011524897.1:n.277+5G>C | |
| XM_011526595.2:c.277+5G>C | XP_011524897.1:n.277+5G>C | |
| XM_017026428.1:c.277+5G>C | XP_016881917.1:n.277+5G>C | |
| XM_017026429.1:c.277+5G>C | XP_016881918.1:n.277+5G>C | |
| XM_017026430.2:c.277+5G>C | XP_016881919.1:n.277+5G>C | |
| NM_139284.3:c.793+5G>C MANE Select | NP_644813.1:n.793+5G>C |