Linked Data
ClinVar Variation Id:
12728
ClinVar RCV Id:
RCV000013565
dbSNP Id:
rs121909501
ExAC:
3:46621476 C / T
gnomAD v2:
3-46621476-C-T
gnomAD v3:
3-46579986-C-T
gnomAD v4:
3-46579986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46579986C>T , CM000665.2:g.46579986C>T | GRCh38 |
| NC_000003.11:g.46621476C>T , CM000665.1:g.46621476C>T | GRCh37 |
| NC_000003.10:g.46596480C>T | NCBI36 |
| NG_017049.1:g.10432C>T | |
| NG_021214.1:g.5097G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682605.1:c.-20+26823G>A (LRRC2) | ENSP00000507018.1:n.-20+26823G>A | |
| ENST00000296145.6:c.374C>T (CRIPTO) MANE Select | ENSP00000296145.5:p.Pro125Leu | |
| ENST00000542931.6:c.326C>T (CRIPTO) | ENSP00000446375.1:p.Pro109Leu | |
| ENST00000296144.3:c.-69G>A (LRRC2) | ENSP00000296144.3:n.-69G>A | |
| ENST00000296145.5:c.374C>T (CRIPTO) | ENSP00000296145.5:p.Pro125Leu | |
| ENST00000542931.5:c.326C>T (CRIPTO) | ENSP00000446375.1:p.Pro109Leu | |
| NM_001174136.1:c.326C>T (CRIPTO) | NP_001167607.1:p.Pro109Leu | |
| NM_003212.3:c.374C>T (CRIPTO) | NP_003203.1:p.Pro125Leu | |
| XM_011534110.1:c.-69G>A (LRRC2) | XP_011532412.1:n.-69G>A | |
| XM_011534110.2:c.-69G>A (LRRC2) | XP_011532412.1:n.-69G>A | |
| NM_003212.4:c.374C>T (CRIPTO) MANE Select | NP_003203.1:p.Pro125Leu | |
| NM_001174136.2:c.326C>T (CRIPTO) | NP_001167607.1:p.Pro109Leu |