COSMIC:
COSM3757228 (not active)
MyVariant.info:
GRCh38
chr19:g.55025227G>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97213926 (EAS)
Genomes Max Group AF
0.95326494 (EAS)
Exomes Max Group AF
0.97222162 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55025227G>A , CM000681.2:g.55025227G>A | GRCh38 |
| NC_000019.8:g.60228407G>A | NCBI36 |
| NG_031963.2:g.18038C>T , LRG_560:g.18038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.655C>T (GP6) | ENSP00000308782.3:p.Pro219Ser | |
| ENST00000333884.2:c.610+2351C>T (GP6) | ENSP00000334552.2:n.610+2351C>T | |
| ENST00000417454.5:c.655C>T (GP6) MANE Select | ENSP00000394922.1:p.Pro219Ser | |
| NM_001083899.2:c.655C>T , LRG_560t3:c.655C>T (GP6) | NP_001077368.2:p.Pro219Ser | |
| NM_001256017.2:c.610+2351C>T , LRG_560t2:c.610+2351C>T (GP6) | NP_001242946.2:n.610+2351C>T | |
| NM_016363.5:c.655C>T , LRG_560t1:c.655C>T (GP6) MANE Select | NP_057447.5:p.Pro219Ser | |
| XR_001754012.2:n.313-17573G>A (GP6-AS1) | ||
| XR_001754013.2:n.306-17573G>A (GP6-AS1) |