Linked Data
ClinVar Variation Id:
1281003
ClinVar RCV Id:
RCV001689022
dbSNP Id:
rs3754690
gnomAD v2:
2-136590558-C-T
gnomAD v3:
2-135832988-C-T
gnomAD v4:
2-135832988-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135832988C>T , CM000664.2:g.135832988C>T | GRCh38 |
| NC_000002.11:g.136590558C>T , CM000664.1:g.136590558C>T | GRCh37 |
| NC_000002.10:g.136307028C>T | NCBI36 |
| NG_008104.2:g.27182G>A , LRG_338:g.27182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.720+123G>A MANE Select | ENSP00000264162.2:n.720+123G>A | |
| ENST00000264162.6:c.720+123G>A | ENSP00000264162.2:n.720+123G>A | |
| NM_002299.2:c.720+123G>A , LRG_338t1:c.720+123G>A | NP_002290.2:n.720+123G>A | |
| NM_002299.3:c.720+123G>A | NP_002290.2:n.720+123G>A | |
| XM_017004088.2:c.720+123G>A | XP_016859577.1:n.720+123G>A | |
| NM_002299.4:c.720+123G>A MANE Select | NP_002290.2:n.720+123G>A |