Linked Data
dbSNP Id:
rs1047964
gnomAD v2:
11-117156893-G-A
gnomAD v3:
11-117286177-G-A
gnomAD v4:
11-117286177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117286177G>A , CM000673.2:g.117286177G>A | GRCh38 |
| NC_000011.9:g.117156893G>A , CM000673.1:g.117156893G>A | GRCh37 |
| NC_000011.8:g.116662103G>A | NCBI36 |
| NG_029372.1:g.35080C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313005.11:c.*3389C>T (BACE1) MANE Select | ENSP00000318585.6:n.*3389C>T | |
| ENST00000300650.9:c.*1026G>A (RNF214) MANE Select | ENSP00000300650.4:n.*1026G>A | |
| ENST00000679585.1:n.5338C>T (BACE1) | ||
| ENST00000680271.1:n.4683C>T (BACE1) | ||
| ENST00000680800.1:n.4701C>T (BACE1) | ||
| ENST00000680971.1:c.*3389C>T (BACE1) | ENSP00000506107.1:n.*3389C>T | |
| ENST00000313005.10:c.*3389C>T (BACE1) | ENSP00000318585.6:n.*3389C>T | |
| ENST00000392937.10:c.*3389C>T (BACE1) | ENSP00000475405.1:n.*3389C>T | |
| ENST00000530849.1:c.*1026G>A (RNF214) | ENSP00000432903.1:n.*1026G>A | |
| NM_001207048.1:c.*3389C>T (BACE1) | NP_001193977.1:n.*3389C>T | |
| NM_001207049.1:c.*3389C>T (BACE1) | NP_001193978.1:n.*3389C>T | |
| NM_012104.4:c.*3389C>T (BACE1) | NP_036236.1:n.*3389C>T | |
| NM_138971.3:c.*3389C>T (BACE1) | NP_620427.1:n.*3389C>T | |
| NM_138972.3:c.*3389C>T (BACE1) | NP_620428.1:n.*3389C>T | |
| NM_138973.3:c.*3389C>T (BACE1) | NP_620429.1:n.*3389C>T | |
| NM_207343.4:c.*1026G>A (RNF214) MANE Select | NP_997226.2:n.*1026G>A | |
| NM_001207048.2:c.*3389C>T (BACE1) | NP_001193977.1:n.*3389C>T | |
| NM_001207049.2:c.*3389C>T (BACE1) | NP_001193978.1:n.*3389C>T | |
| NM_001077239.2:c.*1026G>A (RNF214) | NP_001070707.1:n.*1026G>A | |
| NM_001207048.3:c.*3389C>T (BACE1) | NP_001193977.1:n.*3389C>T | |
| NM_001207049.3:c.*3389C>T (BACE1) | NP_001193978.1:n.*3389C>T | |
| NM_001278249.2:c.*1026G>A (RNF214) | NP_001265178.1:n.*1026G>A | |
| NM_012104.6:c.*3389C>T (BACE1) MANE Select | NP_036236.1:n.*3389C>T | |
| NM_138971.4:c.*3389C>T (BACE1) | NP_620427.1:n.*3389C>T | |
| NM_138972.4:c.*3389C>T (BACE1) | NP_620428.1:n.*3389C>T | |
| NM_138973.4:c.*3389C>T (BACE1) | NP_620429.1:n.*3389C>T |