Linked Data
dbSNP Id:
rs767854160
ExAC:
1:94508455 C / A
gnomAD v2:
1-94508455-C-A
gnomAD v4:
1-94042899-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042899C>A , CM000663.2:g.94042899C>A | GRCh38 |
| NC_000001.10:g.94508455C>A , CM000663.1:g.94508455C>A | GRCh37 |
| NC_000001.9:g.94281043C>A | NCBI36 |
| NG_009073.1:g.83251G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3191-1G>T MANE Select | ENSP00000359245.3:n.3191-1G>T | |
| ENST00000370225.3:c.3191-1G>T | ENSP00000359245.3:n.3191-1G>T | |
| ENST00000536513.5:c.-64-2810G>T | ENSP00000439707.2:n.-64-2810G>T | |
| NM_000350.2:c.3191-1G>T | NP_000341.2:n.3191-1G>T | |
| NM_000350.3:c.3191-1G>T MANE Select | NP_000341.2:n.3191-1G>T |