Linked Data
ClinVar Variation Id:
10097
ClinVar RCV Id:
RCV000010809
dbSNP Id:
rs387906429
gnomAD v2:
X-154219579-C-T
gnomAD v3:
X-154991304-C-T
gnomAD v4:
X-154991304-C-T
COSMIC:
COSN8168328
PubMed:
PMID:2833855
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154991304C>T , CM000685.2:g.154991304C>T | GRCh38 |
| NC_000023.10:g.154219579C>T , CM000685.1:g.154219579C>T | GRCh37 |
| NC_000023.9:g.153872773C>T | NCBI36 |
| NG_011403.1:g.36420G>A | |
| NG_011403.2:g.36420G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.601+1632G>A MANE Select | ENSP00000353393.4:n.601+1632G>A | |
| ENST00000647125.1:c.*387+1632G>A | ENSP00000496062.1:n.*387+1632G>A | |
| ENST00000360256.8:c.601+1632G>A | ENSP00000353393.4:n.601+1632G>A | |
| ENST00000423959.5:c.496+1632G>A | ENSP00000409446.1:n.496+1632G>A | |
| NM_000132.3:c.601+1632G>A | NP_000123.1:n.601+1632G>A | |
| XM_011531126.1:c.496+1632G>A | XP_011529428.1:n.496+1632G>A | |
| NM_000132.4:c.601+1632G>A MANE Select | NP_000123.1:n.601+1632G>A |