Linked Data
ClinVar Variation Id:
224753
dbSNP Id:
rs869312182
gnomAD v4:
1-216000442-G-T
ERepo:
CA354063/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216000442G>T , CM000663.2:g.216000442G>T | GRCh38 |
| NC_000001.10:g.216173784G>T , CM000663.1:g.216173784G>T | GRCh37 |
| NC_000001.9:g.214240407G>T | NCBI36 |
| NG_009497.1:g.427955C>A | |
| NG_009497.2:g.428007C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6446C>A MANE Select | ENSP00000305941.3:p.Pro2149Gln | |
| ENST00000674083.1:c.6446C>A | ENSP00000501296.1:p.Pro2149Gln | |
| ENST00000307340.7:c.6446C>A | ENSP00000305941.3:p.Pro2149Gln | |
| NM_206933.2:c.6446C>A | NP_996816.2:p.Pro2149Gln | |
| NM_206933.3:c.6446C>A | NP_996816.2:p.Pro2149Gln | |
| NM_206933.4:c.6446C>A MANE Select | NP_996816.3:p.Pro2149Gln |