Linked Data
ClinVar Variation Id:
259451
dbSNP Id:
rs334354
ExAC:
9:101908915 G / A
gnomAD v2:
9-101908915-G-A
gnomAD v3:
9-99146633-G-A
gnomAD v4:
9-99146633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99146633G>A , CM000671.2:g.99146633G>A | GRCh38 |
| NC_000009.11:g.101908915G>A , CM000671.1:g.101908915G>A | GRCh37 |
| NC_000009.10:g.100948736G>A | NCBI36 |
| NG_007461.1:g.46504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.1048+24G>A | ENSP00000449934.2:n.1048+24G>A | |
| ENST00000552573.7:c.1060+24G>A | ENSP00000447182.3:n.1060+24G>A | |
| ENST00000548365.6:c.*177+24G>A | ENSP00000448518.2:n.*177+24G>A | |
| ENST00000549021.6:c.817+24G>A | ENSP00000449028.2:n.817+24G>A | |
| ENST00000698941.1:c.1060+24G>A | ENSP00000514048.1:n.1060+24G>A | |
| ENST00000698942.1:c.*1051+24G>A | ENSP00000514049.1:n.*1051+24G>A | |
| ENST00000374994.9:c.1255+24G>A MANE Select | ENSP00000364133.4:n.1255+24G>A | |
| ENST00000374990.6:c.1024+24G>A | ENSP00000364129.2:n.1024+24G>A | |
| ENST00000374994.8:c.1255+24G>A | ENSP00000364133.4:n.1255+24G>A | |
| ENST00000549766.5:c.1143-1021G>A | ENSP00000446685.1:n.1143-1021G>A | |
| ENST00000550253.1:c.1048+24G>A | ENSP00000450052.1:n.1048+24G>A | |
| ENST00000552516.5:c.1267+24G>A | ENSP00000447297.1:n.1267+24G>A | |
| NM_001130916.1:c.1024+24G>A | NP_001124388.1:n.1024+24G>A | |
| NM_001130916.2:c.1024+24G>A | NP_001124388.1:n.1024+24G>A | |
| NM_001306210.1:c.1267+24G>A | NP_001293139.1:n.1267+24G>A | |
| NM_004612.2:c.1255+24G>A | NP_004603.1:n.1255+24G>A | |
| NM_004612.3:c.1255+24G>A | NP_004603.1:n.1255+24G>A | |
| XM_011518948.1:c.1060+24G>A | XP_011517250.1:n.1060+24G>A | |
| XM_011518949.1:c.1048+24G>A | XP_011517251.1:n.1048+24G>A | |
| XM_011518950.1:c.817+24G>A | XP_011517252.1:n.817+24G>A | |
| XM_011518948.2:c.1060+24G>A | XP_011517250.1:n.1060+24G>A | |
| XM_011518949.2:c.1048+24G>A | XP_011517251.1:n.1048+24G>A | |
| XM_011518950.2:c.817+24G>A | XP_011517252.1:n.817+24G>A | |
| XM_017015063.1:c.1060+24G>A | XP_016870552.1:n.1060+24G>A | |
| XM_024447658.1:c.1048+24G>A | XP_024303426.1:n.1048+24G>A | |
| NM_004612.4:c.1255+24G>A MANE Select | NP_004603.1:n.1255+24G>A | |
| NM_001130916.3:c.1024+24G>A | NP_001124388.1:n.1024+24G>A | |
| NM_001306210.2:c.1267+24G>A | NP_001293139.1:n.1267+24G>A |