Linked Data
dbSNP Id:
rs1654413
gnomAD v4:
19-55014991-A-C
MyVariant Identifiers:
chr19:g.55014991A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55014991A>C , CM000681.2:g.55014991A>C | GRCh38 |
| NC_000019.8:g.60218171A>C | NCBI36 |
| NG_031963.2:g.28274T>G , LRG_560:g.28274T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310373.7:c.954T>G (GP6) | ENSP00000308782.3:p.Ala318= | |
| ENST00000333884.2:c.896T>G (GP6) | ENSP00000334552.2:p.Leu299Arg | |
| ENST00000417454.5:c.950T>G (GP6) MANE Select | ENSP00000394922.1:p.Leu317Arg | |
| ENST00000465648.1:n.394T>G (GP6) | ||
| NM_001083899.2:c.954T>G , LRG_560t3:c.954T>G (GP6) | NP_001077368.2:p.Ala318= | |
| NM_001256017.2:c.896T>G , LRG_560t2:c.896T>G (GP6) | NP_001242946.2:p.Leu299Arg | |
| NM_016363.5:c.950T>G , LRG_560t1:c.950T>G (GP6) MANE Select | NP_057447.5:p.Leu317Arg | |
| XR_001754012.2:n.312+8527A>C (GP6-AS1) | ||
| XR_001754013.2:n.305+8527A>C (GP6-AS1) |