Linked Data
ClinVar Variation Id:
55933
ClinVar RCV Id:
RCV000201206
dbSNP Id:
rs367543284
PubMed:
PMID:24105366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.172382035C>T , CM000667.2:g.172382035C>T | GRCh38 |
| NC_000005.9:g.171809039C>T , CM000667.1:g.171809039C>T | GRCh37 |
| NC_000005.8:g.171741644C>T | NCBI36 |
| NG_027746.1:g.77489G>A | |
| NG_027746.2:g.77489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311601.6:c.401+1G>A MANE Select | ENSP00000309714.5:n.401+1G>A | |
| ENST00000636523.1:c.357+1G>A | ||
| ENST00000311601.5:c.401+1G>A | ENSP00000309714.5:n.401+1G>A | |
| ENST00000519643.5:c.401+1G>A | ENSP00000430890.1:n.401+1G>A | |
| NM_001017995.2:c.401+1G>A | NP_001017995.1:n.401+1G>A | |
| NM_001308175.1:c.401+1G>A | NP_001295104.1:n.401+1G>A | |
| XM_017009351.1:c.401+1G>A | XP_016864840.1:n.401+1G>A | |
| NM_001017995.3:c.401+1G>A MANE Select | NP_001017995.1:n.401+1G>A | |
| NM_001308175.2:c.401+1G>A | NP_001295104.1:n.401+1G>A |