Linked Data
dbSNP Id:
rs762831698
gnomAD v2:
3-10183520-A-G
gnomAD v3:
3-10141836-A-G
gnomAD v4:
3-10141836-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141836A>G , CM000665.2:g.10141836A>G | GRCh38 |
| NC_000003.11:g.10183520A>G , CM000665.1:g.10183520A>G | GRCh37 |
| NC_000003.10:g.10158520A>G | NCBI36 |
| NG_008212.3:g.5202A>G , LRG_322:g.5202A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.-12A>G | ENSP00000512434.1:n.-12A>G | |
| ENST00000696153.1:c.-12A>G | ENSP00000512444.1:n.-12A>G | |
| ENST00000256474.3:c.-12A>G MANE Select | ENSP00000256474.3:n.-12A>G | |
| ENST00000256474.2:c.-12A>G | ENSP00000256474.2:n.-12A>G | |
| ENST00000345392.2:c.-12A>G | ENSP00000344757.2:n.-12A>G | |
| NM_000551.3:c.-12A>G , LRG_322t1:c.-12A>G | NP_000542.1:n.-12A>G | |
| NM_198156.2:c.-12A>G | NP_937799.1:n.-12A>G | |
| XM_011534078.1:c.-12A>G | XP_011532380.1:n.-12A>G | |
| NM_001354723.1:c.-12A>G | NP_001341652.1:n.-12A>G | |
| NM_000551.4:c.-12A>G MANE Select | NP_000542.1:n.-12A>G | |
| NM_001354723.2:c.-12A>G | NP_001341652.1:n.-12A>G | |
| NM_198156.3:c.-12A>G | NP_937799.1:n.-12A>G |