COSMIC:
COSM1396466 (not active)
MyVariant.info:
GRCh38
chr19:g.55014977T>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97318661 (EAS)
Genomes Max Group AF
0.95289643 (EAS)
Exomes Max Group AF
0.97341196 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55014977T>G , CM000681.2:g.55014977T>G | GRCh38 |
| NC_000019.8:g.60218157T>G | NCBI36 |
| NG_031963.2:g.28288A>C , LRG_560:g.28288A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.968A>C (GP6) | ENSP00000308782.3:p.Lys323Thr | |
| ENST00000333884.2:c.910A>C (GP6) | ENSP00000334552.2:p.Asn304His | |
| ENST00000417454.5:c.964A>C (GP6) MANE Select | ENSP00000394922.1:p.Asn322His | |
| ENST00000465648.1:n.408A>C (GP6) | ||
| NM_001083899.2:c.968A>C , LRG_560t3:c.968A>C (GP6) | NP_001077368.2:p.Lys323Thr | |
| NM_001256017.2:c.910A>C , LRG_560t2:c.910A>C (GP6) | NP_001242946.2:p.Asn304His | |
| NM_016363.5:c.964A>C , LRG_560t1:c.964A>C (GP6) MANE Select | NP_057447.5:p.Asn322His | |
| XR_001754012.2:n.312+8513T>G (GP6-AS1) | ||
| XR_001754013.2:n.305+8513T>G (GP6-AS1) |