Linked Data
dbSNP Id:
rs758312934
gnomAD v2:
9-32455524-G-A
gnomAD v3:
9-32455526-G-A
gnomAD v4:
9-32455526-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32455526G>A , CM000671.2:g.32455526G>A | GRCh38 |
| NC_000009.11:g.32455524G>A , CM000671.1:g.32455524G>A | GRCh37 |
| NC_000009.10:g.32445524G>A | NCBI36 |
| NG_046918.1:g.75799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379868.6:c.*1596C>T | ENSP00000369197.2:n.*1596C>T | |
| ENST00000379883.3:c.*1596C>T MANE Select | ENSP00000369213.2:n.*1596C>T | |
| ENST00000679665.1:c.*1596C>T | ENSP00000504921.1:n.*1596C>T | |
| ENST00000679771.1:c.*3797C>T | ENSP00000505015.1:n.*3797C>T | |
| ENST00000680198.1:c.*4142C>T | ENSP00000505143.1:n.*4142C>T | |
| ENST00000681750.1:c.*1596C>T | ENSP00000506413.1:n.*1596C>T | |
| NM_014314.3:c.*1596C>T | NP_055129.2:n.*1596C>T | |
| NM_014314.4:c.*1596C>T MANE Select | NP_055129.2:n.*1596C>T | |
| NM_001385907.1:c.*1596C>T | NP_001372836.1:n.*1596C>T | |
| NM_001385909.1:c.*1596C>T | NP_001372838.1:n.*1596C>T | |
| NM_001385910.1:c.*1596C>T | NP_001372839.1:n.*1596C>T | |
| NM_001385912.1:c.*1596C>T | NP_001372841.1:n.*1596C>T | |
| NM_001385913.1:c.*1596C>T | NP_001372842.1:n.*1596C>T | |
| NM_001385914.1:c.*1596C>T | NP_001372843.1:n.*1596C>T |