Linked Data
dbSNP Id:
rs1339070484
gnomAD v2:
11-6415921-G-T
gnomAD v3:
11-6394691-G-T
gnomAD v4:
11-6394691-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394691G>T , CM000673.2:g.6394691G>T | GRCh38 |
| NC_000011.9:g.6415921G>T , CM000673.1:g.6415921G>T | GRCh37 |
| NC_000011.8:g.6372497G>T | NCBI36 |
| NG_011780.1:g.9267G>T | |
| NG_029615.1:g.29724C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.*84G>T MANE Select | ENSP00000340409.4:n.*84G>T | |
| ENST00000342245.8:c.*84G>T | ENSP00000340409.4:n.*84G>T | |
| ENST00000526280.1:c.1037G>T | ||
| ENST00000527275.5:c.*84G>T | ENSP00000435350.1:n.*84G>T | |
| ENST00000531303.5:c.*831G>T | ENSP00000432625.1:n.*831G>T | |
| ENST00000533123.5:c.*707G>T | ENSP00000435950.1:n.*707G>T | |
| ENST00000534405.5:c.*811G>T | ENSP00000434353.1:n.*811G>T | |
| NM_000543.4:c.*84G>T | NP_000534.3:n.*84G>T | |
| NM_001007593.2:c.*84G>T | NP_001007594.2:n.*84G>T | |
| XM_011520303.1:c.*84G>T | XP_011518605.1:n.*84G>T | |
| NM_001318087.1:c.*473G>T | NP_001305016.1:n.*473G>T | |
| NM_001318088.1:c.*84G>T | NP_001305017.1:n.*84G>T | |
| NM_001365135.1:c.*84G>T | NP_001352064.1:n.*84G>T | |
| NR_027400.2:n.1993G>T | ||
| NR_134502.1:n.1532G>T | ||
| XR_001747940.2:n.2165G>T | ||
| XR_002957158.1:n.2347G>T | ||
| NM_000543.5:c.*84G>T MANE Select | NP_000534.3:n.*84G>T | |
| NM_001007593.3:c.*84G>T | NP_001007594.2:n.*84G>T | |
| NM_001318087.2:c.*473G>T | NP_001305016.1:n.*473G>T | |
| NM_001318088.2:c.*84G>T | NP_001305017.1:n.*84G>T | |
| NM_001365135.2:c.*84G>T | NP_001352064.1:n.*84G>T | |
| NR_027400.3:n.1933G>T | ||
| NR_134502.2:n.1472G>T |