Linked Data
dbSNP Id:
rs181014938
gnomAD v2:
3-160226140-T-A
gnomAD v3:
3-160508352-T-A
gnomAD v4:
3-160508352-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.160508352T>A , CM000665.2:g.160508352T>A | GRCh38 |
| NC_000003.11:g.160226140T>A , CM000665.1:g.160226140T>A | GRCh37 |
| NC_000003.10:g.161708834T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334256.9:c.1210-83A>T MANE Select | ENSP00000334373.4:n.1210-83A>T | |
| ENST00000483437.2:c.1210-83A>T | ENSP00000417172.2:n.1210-83A>T | |
| ENST00000676799.1:c.*1159-83A>T | ENSP00000503839.1:n.*1159-83A>T | |
| ENST00000676866.1:c.1138-83A>T | ENSP00000503291.1:n.1138-83A>T | |
| ENST00000676958.1:c.1322-83A>T | ENSP00000503083.1:n.1322-83A>T | |
| ENST00000678020.1:n.1390-83A>T | ||
| ENST00000678630.1:c.*1175-83A>T | ENSP00000504510.1:n.*1175-83A>T | |
| ENST00000678765.1:c.1078-83A>T | ENSP00000503064.1:n.1078-83A>T | |
| ENST00000334256.8:c.1210-83A>T | ENSP00000334373.4:n.1210-83A>T | |
| ENST00000483437.1:c.253-83A>T | ENSP00000417172.1:n.253-83A>T | |
| NM_002268.4:c.1210-83A>T | NP_002259.1:n.1210-83A>T | |
| NM_002268.5:c.1210-83A>T MANE Select | NP_002259.1:n.1210-83A>T |