Linked Data
ClinVar Variation Id:
446442
ClinVar RCV Id:
RCV000515690
dbSNP Id:
rs1553356452
PubMed:
PMID:22575033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26494937C>T , CM000664.2:g.26494937C>T | GRCh38 |
| NC_000002.11:g.26717805C>T , CM000664.1:g.26717805C>T | GRCh37 |
| NC_000002.10:g.26571309C>T | NCBI36 |
| NG_009937.1:g.68762G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.897+5G>A MANE Select | ENSP00000272371.2:n.897+5G>A | |
| ENST00000272371.6:c.897+5G>A | ENSP00000272371.2:n.897+5G>A | |
| ENST00000403946.7:c.897+5G>A | ENSP00000385255.3:n.897+5G>A | |
| NM_001287489.1:c.897+5G>A | NP_001274418.1:n.897+5G>A | |
| NM_194248.2:c.897+5G>A | NP_919224.1:n.897+5G>A | |
| XM_005264644.2:c.942+5G>A | XP_005264701.1:n.942+5G>A | |
| XM_011533185.1:c.942+5G>A | XP_011531487.1:n.942+5G>A | |
| XM_017005338.1:c.897+5G>A | XP_016860827.1:n.897+5G>A | |
| NM_001287489.2:c.897+5G>A | NP_001274418.1:n.897+5G>A | |
| NM_194248.3:c.897+5G>A MANE Select | NP_919224.1:n.897+5G>A |