Linked Data
ClinVar Variation Id:
204154
ClinVar RCV Id:
RCV000186361
dbSNP Id:
rs111996685
gnomAD v4:
2-240874063-G-A
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874063G>A , CM000664.2:g.240874063G>A | GRCh38 |
| NC_000002.11:g.241813480G>A , CM000664.1:g.241813480G>A | GRCh37 |
| NC_000002.10:g.241462153G>A | NCBI36 |
| NG_008005.1:g.10319G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.680+1G>A MANE Select | ENSP00000302620.3:n.680+1G>A | |
| ENST00000307503.3:c.680+1G>A | ENSP00000302620.3:n.680+1G>A | |
| ENST00000476698.1:n.332+1014G>A | ||
| NM_000030.2:c.680+1G>A | NP_000021.1:n.680+1G>A | |
| NM_000030.3:c.680+1G>A MANE Select | NP_000021.1:n.680+1G>A |