Linked Data
dbSNP Id:
rs1452576442
gnomAD v2:
1-216040531-A-T
gnomAD v3:
1-215867189-A-T
gnomAD v4:
1-215867189-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867189A>T , CM000663.2:g.215867189A>T | GRCh38 |
| NC_000001.10:g.216040531A>T , CM000663.1:g.216040531A>T | GRCh37 |
| NC_000001.9:g.214107154A>T | NCBI36 |
| NG_009497.1:g.561208T>A | |
| NG_009497.2:g.561260T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-19T>A MANE Select | ENSP00000305941.3:n.8682-19T>A | |
| ENST00000674083.1:c.8682-19T>A | ENSP00000501296.1:n.8682-19T>A | |
| ENST00000307340.7:c.8682-19T>A | ENSP00000305941.3:n.8682-19T>A | |
| NM_206933.2:c.8682-19T>A | NP_996816.2:n.8682-19T>A | |
| NM_206933.3:c.8682-19T>A | NP_996816.2:n.8682-19T>A | |
| NM_206933.4:c.8682-19T>A MANE Select | NP_996816.3:n.8682-19T>A |