Linked Data
ClinVar Variation Id:
1773102
ClinVar RCV Id:
RCV002394758
dbSNP Id:
rs111426349
gnomAD v2:
9-101911534-C-A
gnomAD v3:
9-99149252-C-A
gnomAD v4:
9-99149252-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99149252C>A , CM000671.2:g.99149252C>A | GRCh38 |
| NC_000009.11:g.101911534C>A , CM000671.1:g.101911534C>A | GRCh37 |
| NC_000009.10:g.100951355C>A | NCBI36 |
| NG_007461.1:g.49123C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.1252C>A | ENSP00000449934.2:p.Arg418= | |
| ENST00000552573.7:c.1264C>A | ENSP00000447182.3:p.Arg422= | |
| ENST00000548365.6:c.*381C>A | ENSP00000448518.2:n.*381C>A | |
| ENST00000549021.6:c.1021C>A | ENSP00000449028.2:p.Arg341= | |
| ENST00000698941.1:c.1264C>A | ENSP00000514048.1:p.Arg422= | |
| ENST00000698942.1:c.*1255C>A | ENSP00000514049.1:n.*1255C>A | |
| ENST00000698943.1:n.1026C>A | ||
| ENST00000374994.9:c.1459C>A MANE Select | ENSP00000364133.4:p.Arg487= | |
| ENST00000374990.6:c.1228C>A | ENSP00000364129.2:p.Arg410= | |
| ENST00000374994.8:c.1459C>A | ENSP00000364133.4:p.Arg487= | |
| ENST00000549766.5:c.*194C>A | ENSP00000446685.1:n.*194C>A | |
| ENST00000550253.1:c.1252C>A | ENSP00000450052.1:p.Arg418= | |
| ENST00000552516.5:c.1471C>A | ENSP00000447297.1:p.Arg491= | |
| NM_001130916.1:c.1228C>A | NP_001124388.1:p.Arg410= | |
| NM_001130916.2:c.1228C>A | NP_001124388.1:p.Arg410= | |
| NM_001306210.1:c.1471C>A | NP_001293139.1:p.Arg491= | |
| NM_004612.2:c.1459C>A | NP_004603.1:p.Arg487= | |
| NM_004612.3:c.1459C>A | NP_004603.1:p.Arg487= | |
| XM_011518948.1:c.1264C>A | XP_011517250.1:p.Arg422= | |
| XM_011518949.1:c.1252C>A | XP_011517251.1:p.Arg418= | |
| XM_011518950.1:c.1021C>A | XP_011517252.1:p.Arg341= | |
| XM_011518948.2:c.1264C>A | XP_011517250.1:p.Arg422= | |
| XM_011518949.2:c.1252C>A | XP_011517251.1:p.Arg418= | |
| XM_011518950.2:c.1021C>A | XP_011517252.1:p.Arg341= | |
| XM_017015063.1:c.1264C>A | XP_016870552.1:p.Arg422= | |
| XM_024447658.1:c.1252C>A | XP_024303426.1:p.Arg418= | |
| NM_004612.4:c.1459C>A MANE Select | NP_004603.1:p.Arg487= | |
| NM_001130916.3:c.1228C>A | NP_001124388.1:p.Arg410= | |
| NM_001306210.2:c.1471C>A | NP_001293139.1:p.Arg491= |