Linked Data
ClinVar Variation Id:
204151
ClinVar RCV Id:
RCV000186358
dbSNP Id:
rs796052067
gnomAD v4:
2-240869363-G-T
PubMed:
PMID:15253729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869363G>T , CM000664.2:g.240869363G>T | GRCh38 |
| NC_000002.11:g.241808780G>T , CM000664.1:g.241808780G>T | GRCh37 |
| NC_000002.10:g.241457453G>T | NCBI36 |
| NG_008005.1:g.5619G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.358+1G>T MANE Select | ENSP00000302620.3:n.358+1G>T | |
| ENST00000307503.3:c.358+1G>T | ENSP00000302620.3:n.358+1G>T | |
| ENST00000472436.1:n.378+1G>T | ||
| NM_000030.2:c.358+1G>T | NP_000021.1:n.358+1G>T | |
| XR_924060.1:n.405+870C>A | ||
| NM_000030.3:c.358+1G>T MANE Select | NP_000021.1:n.358+1G>T |