MyVariant.info:
GRCh38
chr19:g.7677916T>G
gnomAD v4:
Joint Max Group AF
0.00000399 (NFE)
Exomes Max Group AF
0.0000044 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7677916T>G , CM000681.2:g.7677916T>G | GRCh38 |
| NC_000019.9:g.7742802T>G , CM000681.1:g.7742802T>G | GRCh37 |
| NC_000019.8:g.7648802T>G | NCBI36 |
| NG_055288.1:g.2096T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333598.8:c.146-188T>G MANE Select | ENSP00000329920.3:n.146-188T>G | |
| ENST00000333598.7:c.185-188T>G | ENSP00000329920.2:n.185-188T>G | |
| ENST00000597445.1:c.56-188T>G | ENSP00000471413.1:n.56-188T>G | |
| NM_174918.2:c.185-188T>G | NP_777578.2:n.185-188T>G | |
| NM_174918.3:c.146-188T>G MANE Select | NP_777578.3:n.146-188T>G |