Linked Data
ClinVar Variation Id:
364125
dbSNP Id:
rs201191009
gnomAD v2:
9-101913359-A-C
gnomAD v3:
9-99151077-A-C
gnomAD v4:
9-99151077-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99151077A>C , CM000671.2:g.99151077A>C | GRCh38 |
| NC_000009.11:g.101913359A>C , CM000671.1:g.101913359A>C | GRCh37 |
| NC_000009.10:g.100953180A>C | NCBI36 |
| NG_007461.1:g.50948A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.*1772A>C | ENSP00000449934.2:n.*1772A>C | |
| ENST00000552573.7:c.*1772A>C | ENSP00000447182.3:n.*1772A>C | |
| ENST00000698941.1:c.*1772A>C | ENSP00000514048.1:n.*1772A>C | |
| ENST00000698943.1:n.2851A>C | ||
| ENST00000374994.9:c.*1772A>C MANE Select | ENSP00000364133.4:n.*1772A>C | |
| ENST00000374990.6:c.*1772A>C | ENSP00000364129.2:n.*1772A>C | |
| ENST00000374994.8:c.*1772A>C | ENSP00000364133.4:n.*1772A>C | |
| ENST00000552516.5:c.*1772A>C | ENSP00000447297.1:n.*1772A>C | |
| NM_001130916.1:c.*1772A>C | NP_001124388.1:n.*1772A>C | |
| NM_001130916.2:c.*1772A>C | NP_001124388.1:n.*1772A>C | |
| NM_001306210.1:c.*1772A>C | NP_001293139.1:n.*1772A>C | |
| NM_004612.2:c.*1772A>C | NP_004603.1:n.*1772A>C | |
| NM_004612.3:c.*1772A>C | NP_004603.1:n.*1772A>C | |
| XM_011518948.1:c.*1772A>C | XP_011517250.1:n.*1772A>C | |
| XM_011518949.1:c.*1772A>C | XP_011517251.1:n.*1772A>C | |
| XM_011518950.1:c.*1772A>C | XP_011517252.1:n.*1772A>C | |
| NM_004612.4:c.*1772A>C MANE Select | NP_004603.1:n.*1772A>C | |
| NM_001130916.3:c.*1772A>C | NP_001124388.1:n.*1772A>C | |
| NM_001306210.2:c.*1772A>C | NP_001293139.1:n.*1772A>C |