Linked Data
ClinVar Variation Id:
477564
ClinVar RCV Id:
RCV002483508
dbSNP Id:
rs757284158
ExAC:
9:101904901 G / A
gnomAD v2:
9-101904901-G-A
gnomAD v3:
9-99142619-G-A
gnomAD v4:
9-99142619-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99142619G>A , CM000671.2:g.99142619G>A | GRCh38 |
| NC_000009.11:g.101904901G>A , CM000671.1:g.101904901G>A | GRCh37 |
| NC_000009.10:g.100944722G>A | NCBI36 |
| NG_007461.1:g.42490G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.682G>A | ENSP00000449934.2:p.Val228Ile | |
| ENST00000552573.7:c.694G>A | ENSP00000447182.3:p.Val232Ile | |
| ENST00000548365.6:c.463G>A | ENSP00000448518.2:p.Val155Ile | |
| ENST00000549021.6:c.451G>A | ENSP00000449028.2:p.Val151Ile | |
| ENST00000698941.1:c.694G>A | ENSP00000514048.1:p.Val232Ile | |
| ENST00000698942.1:c.*685G>A | ENSP00000514049.1:n.*685G>A | |
| ENST00000374994.9:c.889G>A MANE Select | ENSP00000364133.4:p.Val297Ile | |
| ENST00000374990.6:c.658G>A | ENSP00000364129.2:p.Val220Ile | |
| ENST00000374994.8:c.889G>A | ENSP00000364133.4:p.Val297Ile | |
| ENST00000549766.5:c.901G>A | ENSP00000446685.1:p.Val301Ile | |
| ENST00000550253.1:c.682G>A | ENSP00000450052.1:p.Val228Ile | |
| ENST00000552516.5:c.901G>A | ENSP00000447297.1:p.Val301Ile | |
| NM_001130916.1:c.658G>A | NP_001124388.1:p.Val220Ile | |
| NM_001130916.2:c.658G>A | NP_001124388.1:p.Val220Ile | |
| NM_001306210.1:c.901G>A | NP_001293139.1:p.Val301Ile | |
| NM_004612.2:c.889G>A | NP_004603.1:p.Val297Ile | |
| NM_004612.3:c.889G>A | NP_004603.1:p.Val297Ile | |
| XM_011518948.1:c.694G>A | XP_011517250.1:p.Val232Ile | |
| XM_011518949.1:c.682G>A | XP_011517251.1:p.Val228Ile | |
| XM_011518950.1:c.451G>A | XP_011517252.1:p.Val151Ile | |
| XM_011518948.2:c.694G>A | XP_011517250.1:p.Val232Ile | |
| XM_011518949.2:c.682G>A | XP_011517251.1:p.Val228Ile | |
| XM_011518950.2:c.451G>A | XP_011517252.1:p.Val151Ile | |
| XM_017015063.1:c.694G>A | XP_016870552.1:p.Val232Ile | |
| XM_024447658.1:c.682G>A | XP_024303426.1:p.Val228Ile | |
| NM_004612.4:c.889G>A MANE Select | NP_004603.1:p.Val297Ile | |
| NM_001130916.3:c.658G>A | NP_001124388.1:p.Val220Ile | |
| NM_001306210.2:c.901G>A | NP_001293139.1:p.Val301Ile |