Linked Data
ClinVar Variation Id:
513189
ClinVar RCV Id:
RCV000609406
dbSNP Id:
rs1349047110
gnomAD v4:
3-10141812-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141812C>T , CM000665.2:g.10141812C>T | GRCh38 |
| NC_000003.11:g.10183496C>T , CM000665.1:g.10183496C>T | GRCh37 |
| NC_000003.10:g.10158496C>T | NCBI36 |
| NG_008212.3:g.5178C>T , LRG_322:g.5178C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.-36C>T | ENSP00000512434.1:n.-36C>T | |
| ENST00000696153.1:c.-36C>T | ENSP00000512444.1:n.-36C>T | |
| ENST00000256474.3:c.-36C>T MANE Select | ENSP00000256474.3:n.-36C>T | |
| ENST00000256474.2:c.-36C>T | ENSP00000256474.2:n.-36C>T | |
| ENST00000345392.2:c.-36C>T | ENSP00000344757.2:n.-36C>T | |
| NM_000551.3:c.-36C>T , LRG_322t1:c.-36C>T | NP_000542.1:n.-36C>T | |
| NM_198156.2:c.-36C>T | NP_937799.1:n.-36C>T | |
| XM_011534078.1:c.-36C>T | XP_011532380.1:n.-36C>T | |
| NM_001354723.1:c.-36C>T | NP_001341652.1:n.-36C>T | |
| NM_000551.4:c.-36C>T MANE Select | NP_000542.1:n.-36C>T | |
| NM_001354723.2:c.-36C>T | NP_001341652.1:n.-36C>T | |
| NM_198156.3:c.-36C>T | NP_937799.1:n.-36C>T |