Linked Data
ClinVar Variation Id:
2885986
ClinVar RCV Id:
RCV003597860
dbSNP Id:
rs376731989
ExAC:
10:90982250 C / T
gnomAD v2:
10-90982250-C-T
gnomAD v3:
10-89222493-C-T
gnomAD v4:
10-89222493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89222493C>T , CM000672.2:g.89222493C>T | GRCh38 |
| NC_000010.10:g.90982250C>T , CM000672.1:g.90982250C>T | GRCh37 |
| NC_000010.9:g.90972230C>T | NCBI36 |
| NG_008194.1:g.34411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.894+18G>A MANE Select | ENSP00000337354.5:n.894+18G>A | |
| ENST00000336233.9:c.894+18G>A | ENSP00000337354.5:n.894+18G>A | |
| ENST00000371837.5:c.726+18G>A | ENSP00000360903.1:n.726+18G>A | |
| ENST00000456827.5:c.546+18G>A | ENSP00000413019.2:n.546+18G>A | |
| NM_000235.3:c.894+18G>A | NP_000226.2:n.894+18G>A | |
| NM_001127605.2:c.894+18G>A | NP_001121077.1:n.894+18G>A | |
| NM_001288979.1:c.546+18G>A | NP_001275908.1:n.546+18G>A | |
| XM_024448023.1:c.894+18G>A | XP_024303791.1:n.894+18G>A | |
| NM_000235.4:c.894+18G>A MANE Select | NP_000226.2:n.894+18G>A | |
| NM_001127605.3:c.894+18G>A | NP_001121077.1:n.894+18G>A | |
| NM_001288979.2:c.546+18G>A | NP_001275908.1:n.546+18G>A |