Linked Data
dbSNP Id:
rs770106401
gnomAD v3:
19-55015695-C-G
gnomAD v4:
19-55015695-C-G
MyVariant Identifiers:
chr19:g.55015695C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55015695C>G , CM000681.2:g.55015695C>G | GRCh38 |
| NC_000019.8:g.60218875C>G | NCBI36 |
| NG_031963.2:g.27570G>C , LRG_560:g.27570G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.763G>C (GP6) | ENSP00000308782.3:p.Asp255His | |
| ENST00000333884.2:c.709G>C (GP6) | ENSP00000334552.2:p.Asp237His | |
| ENST00000417454.5:c.763G>C (GP6) MANE Select | ENSP00000394922.1:p.Asp255His | |
| ENST00000465648.1:n.207G>C (GP6) | ||
| NM_001083899.2:c.763G>C , LRG_560t3:c.763G>C (GP6) | NP_001077368.2:p.Asp255His | |
| NM_001256017.2:c.709G>C , LRG_560t2:c.709G>C (GP6) | NP_001242946.2:p.Asp237His | |
| NM_016363.5:c.763G>C , LRG_560t1:c.763G>C (GP6) MANE Select | NP_057447.5:p.Asp255His | |
| XR_001754012.2:n.312+9231C>G (GP6-AS1) | ||
| XR_001754013.2:n.305+9231C>G (GP6-AS1) |