Linked Data
dbSNP Id:
rs375046548
gnomAD v2:
2-185778420-A-T
gnomAD v3:
2-184913693-A-T
gnomAD v4:
2-184913693-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184913693A>T , CM000664.2:g.184913693A>T | GRCh38 |
| NC_000002.11:g.185778420A>T , CM000664.1:g.185778420A>T | GRCh37 |
| NC_000002.10:g.185486665A>T | NCBI36 |
| NG_046950.1:g.320328A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.256-19910A>T MANE Select | ENSP00000303252.6:n.256-19910A>T | |
| ENST00000302277.6:c.256-19910A>T | ENSP00000303252.6:n.256-19910A>T | |
| ENST00000613975.1:c.1-19910A>T | ENSP00000483032.1:n.1-19910A>T | |
| NM_194250.1:c.256-19910A>T | NP_919226.1:n.256-19910A>T | |
| NM_194250.2:c.256-19910A>T MANE Select | NP_919226.1:n.256-19910A>T |