Linked Data
ClinVar Variation Id:
3019232
ClinVar RCV Id:
RCV003871863
dbSNP Id:
rs1387712480
gnomAD v2:
8-65517226-G-A
gnomAD v3:
8-64604669-G-A
gnomAD v4:
8-64604669-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64604669G>A , CM000670.2:g.64604669G>A | GRCh38 |
| NC_000008.10:g.65517226G>A , CM000670.1:g.65517226G>A | GRCh37 |
| NC_000008.9:g.65679780G>A | NCBI36 |
| NG_008338.1:g.199123C>T | |
| NG_008338.2:g.199123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.1233+13C>T MANE Select | ENSP00000310721.3:n.1233+13C>T | |
| ENST00000310193.3:c.1233+13C>T | ENSP00000310721.3:n.1233+13C>T | |
| ENST00000523954.1:n.507+13C>T | ||
| NM_004820.3:c.1233+13C>T | NP_004811.1:n.1233+13C>T | |
| NM_001324112.1:c.1233+13C>T | NP_001311041.1:n.1233+13C>T | |
| NM_004820.4:c.1233+13C>T | NP_004811.1:n.1233+13C>T | |
| XM_017014002.1:c.1299+13C>T | XP_016869491.1:n.1299+13C>T | |
| NM_004820.5:c.1233+13C>T MANE Select | NP_004811.1:n.1233+13C>T | |
| NM_001324112.2:c.1233+13C>T | NP_001311041.1:n.1233+13C>T |