Linked Data
dbSNP Id:
rs565426130
ExAC:
9:101908717 A / G
gnomAD v2:
9-101908717-A-G
gnomAD v3:
9-99146435-A-G
gnomAD v4:
9-99146435-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99146435A>G , CM000671.2:g.99146435A>G | GRCh38 |
| NC_000009.11:g.101908717A>G , CM000671.1:g.101908717A>G | GRCh37 |
| NC_000009.10:g.100948538A>G | NCBI36 |
| NG_007461.1:g.46306A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.924-50A>G | ENSP00000449934.2:n.924-50A>G | |
| ENST00000552573.7:c.936-50A>G | ENSP00000447182.3:n.936-50A>G | |
| ENST00000548365.6:c.*53-50A>G | ENSP00000448518.2:n.*53-50A>G | |
| ENST00000549021.6:c.693-50A>G | ENSP00000449028.2:n.693-50A>G | |
| ENST00000698941.1:c.936-50A>G | ENSP00000514048.1:n.936-50A>G | |
| ENST00000698942.1:c.*927-50A>G | ENSP00000514049.1:n.*927-50A>G | |
| ENST00000374994.9:c.1131-50A>G MANE Select | ENSP00000364133.4:n.1131-50A>G | |
| ENST00000374990.6:c.900-50A>G | ENSP00000364129.2:n.900-50A>G | |
| ENST00000374994.8:c.1131-50A>G | ENSP00000364133.4:n.1131-50A>G | |
| ENST00000549766.5:c.1143-1219A>G | ENSP00000446685.1:n.1143-1219A>G | |
| ENST00000550253.1:c.924-50A>G | ENSP00000450052.1:n.924-50A>G | |
| ENST00000552516.5:c.1143-50A>G | ENSP00000447297.1:n.1143-50A>G | |
| NM_001130916.1:c.900-50A>G | NP_001124388.1:n.900-50A>G | |
| NM_001130916.2:c.900-50A>G | NP_001124388.1:n.900-50A>G | |
| NM_001306210.1:c.1143-50A>G | NP_001293139.1:n.1143-50A>G | |
| NM_004612.2:c.1131-50A>G | NP_004603.1:n.1131-50A>G | |
| NM_004612.3:c.1131-50A>G | NP_004603.1:n.1131-50A>G | |
| XM_011518948.1:c.936-50A>G | XP_011517250.1:n.936-50A>G | |
| XM_011518949.1:c.924-50A>G | XP_011517251.1:n.924-50A>G | |
| XM_011518950.1:c.693-50A>G | XP_011517252.1:n.693-50A>G | |
| XM_011518948.2:c.936-50A>G | XP_011517250.1:n.936-50A>G | |
| XM_011518949.2:c.924-50A>G | XP_011517251.1:n.924-50A>G | |
| XM_011518950.2:c.693-50A>G | XP_011517252.1:n.693-50A>G | |
| XM_017015063.1:c.936-50A>G | XP_016870552.1:n.936-50A>G | |
| XM_024447658.1:c.924-50A>G | XP_024303426.1:n.924-50A>G | |
| NM_004612.4:c.1131-50A>G MANE Select | NP_004603.1:n.1131-50A>G | |
| NM_001130916.3:c.900-50A>G | NP_001124388.1:n.900-50A>G | |
| NM_001306210.2:c.1143-50A>G | NP_001293139.1:n.1143-50A>G |