Linked Data
ClinVar Variation Id:
439768
dbSNP Id:
rs148228241
gnomAD v2:
16-227187-G-T
gnomAD v3:
16-177188-G-T
gnomAD v4:
16-177188-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177188G>T , CM000678.2:g.177188G>T | GRCh38 |
| NC_000016.9:g.227187G>T , CM000678.1:g.227187G>T | GRCh37 |
| NC_000016.8:g.167187G>T | NCBI36 |
| NG_000006.1:g.38051G>T | |
| NG_059186.1:g.5538G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.300+55G>T MANE Select | ENSP00000322421.5:n.300+55G>T | |
| ENST00000397797.1:c.204+55G>T | ENSP00000380899.1:n.204+55G>T | |
| ENST00000472694.1:n.436+55G>T | ||
| ENST00000487791.1:n.324G>T | ||
| NM_000558.4:c.300+55G>T | NP_000549.1:n.300+55G>T | |
| NM_000558.5:c.300+55G>T MANE Select | NP_000549.1:n.300+55G>T |