Linked Data
dbSNP Id:
rs12610286
gnomAD v3:
19-55030031-A-G
gnomAD v4:
19-55030031-A-G
MyVariant Identifiers:
chr19:g.55030031A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55030031A>G , CM000681.2:g.55030031A>G | GRCh38 |
| NC_000019.8:g.60233211A>G | NCBI36 |
| NG_031963.2:g.13234T>C , LRG_560:g.13234T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310373.7:c.325+2108T>C (GP6) | ENSP00000308782.3:n.325+2108T>C | |
| ENST00000333884.2:c.325+2108T>C (GP6) | ENSP00000334552.2:n.325+2108T>C | |
| ENST00000417454.5:c.325+2108T>C (GP6) MANE Select | ENSP00000394922.1:n.325+2108T>C | |
| ENST00000468239.1:c.94+2108T>C (GP6) | ENSP00000464922.1:n.94+2108T>C | |
| NM_001083899.2:c.325+2108T>C , LRG_560t3:c.325+2108T>C (GP6) | NP_001077368.2:n.325+2108T>C | |
| NM_001256017.2:c.325+2108T>C , LRG_560t2:c.325+2108T>C (GP6) | NP_001242946.2:n.325+2108T>C | |
| NM_016363.5:c.325+2108T>C , LRG_560t1:c.325+2108T>C (GP6) MANE Select | NP_057447.5:n.325+2108T>C | |
| XR_001754012.2:n.313-12769A>G (GP6-AS1) | ||
| XR_001754013.2:n.306-12769A>G (GP6-AS1) |