Linked Data
ClinVar Variation Id:
204163
ClinVar RCV Id:
RCV000186370
dbSNP Id:
rs180177177
PubMed:
PMID:15253729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869169G>A , CM000664.2:g.240869169G>A | GRCh38 |
| NC_000002.11:g.241808586G>A , CM000664.1:g.241808586G>A | GRCh37 |
| NC_000002.10:g.241457259G>A | NCBI36 |
| NG_008005.1:g.5425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.166-1G>A MANE Select | ENSP00000302620.3:n.166-1G>A | |
| ENST00000307503.3:c.166-1G>A | ENSP00000302620.3:n.166-1G>A | |
| ENST00000472436.1:n.186-1G>A | ||
| NM_000030.2:c.166-1G>A | NP_000021.1:n.166-1G>A | |
| XR_924060.1:n.405+1064C>T | ||
| NM_000030.3:c.166-1G>A MANE Select | NP_000021.1:n.166-1G>A |