Linked Data
dbSNP Id:
rs534373957
ExAC:
9:101908745 T / G
gnomAD v2:
9-101908745-T-G
gnomAD v3:
9-99146463-T-G
gnomAD v4:
9-99146463-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99146463T>G , CM000671.2:g.99146463T>G | GRCh38 |
| NC_000009.11:g.101908745T>G , CM000671.1:g.101908745T>G | GRCh37 |
| NC_000009.10:g.100948566T>G | NCBI36 |
| NG_007461.1:g.46334T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.924-22T>G | ENSP00000449934.2:n.924-22T>G | |
| ENST00000552573.7:c.936-22T>G | ENSP00000447182.3:n.936-22T>G | |
| ENST00000548365.6:c.*53-22T>G | ENSP00000448518.2:n.*53-22T>G | |
| ENST00000549021.6:c.693-22T>G | ENSP00000449028.2:n.693-22T>G | |
| ENST00000698941.1:c.936-22T>G | ENSP00000514048.1:n.936-22T>G | |
| ENST00000698942.1:c.*927-22T>G | ENSP00000514049.1:n.*927-22T>G | |
| ENST00000374994.9:c.1131-22T>G MANE Select | ENSP00000364133.4:n.1131-22T>G | |
| ENST00000374990.6:c.900-22T>G | ENSP00000364129.2:n.900-22T>G | |
| ENST00000374994.8:c.1131-22T>G | ENSP00000364133.4:n.1131-22T>G | |
| ENST00000549766.5:c.1143-1191T>G | ENSP00000446685.1:n.1143-1191T>G | |
| ENST00000550253.1:c.924-22T>G | ENSP00000450052.1:n.924-22T>G | |
| ENST00000552516.5:c.1143-22T>G | ENSP00000447297.1:n.1143-22T>G | |
| NM_001130916.1:c.900-22T>G | NP_001124388.1:n.900-22T>G | |
| NM_001130916.2:c.900-22T>G | NP_001124388.1:n.900-22T>G | |
| NM_001306210.1:c.1143-22T>G | NP_001293139.1:n.1143-22T>G | |
| NM_004612.2:c.1131-22T>G | NP_004603.1:n.1131-22T>G | |
| NM_004612.3:c.1131-22T>G | NP_004603.1:n.1131-22T>G | |
| XM_011518948.1:c.936-22T>G | XP_011517250.1:n.936-22T>G | |
| XM_011518949.1:c.924-22T>G | XP_011517251.1:n.924-22T>G | |
| XM_011518950.1:c.693-22T>G | XP_011517252.1:n.693-22T>G | |
| XM_011518948.2:c.936-22T>G | XP_011517250.1:n.936-22T>G | |
| XM_011518949.2:c.924-22T>G | XP_011517251.1:n.924-22T>G | |
| XM_011518950.2:c.693-22T>G | XP_011517252.1:n.693-22T>G | |
| XM_017015063.1:c.936-22T>G | XP_016870552.1:n.936-22T>G | |
| XM_024447658.1:c.924-22T>G | XP_024303426.1:n.924-22T>G | |
| NM_004612.4:c.1131-22T>G MANE Select | NP_004603.1:n.1131-22T>G | |
| NM_001130916.3:c.900-22T>G | NP_001124388.1:n.900-22T>G | |
| NM_001306210.2:c.1143-22T>G | NP_001293139.1:n.1143-22T>G |