Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55024604T>C , CM000681.2:g.55024604T>C | GRCh38 |
| NC_000019.8:g.60227784T>C | NCBI36 |
| NG_031963.2:g.18661A>G , LRG_560:g.18661A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310373.7:c.664+614A>G (GP6) | ENSP00000308782.3:n.664+614A>G | |
| ENST00000333884.2:c.610+2974A>G (GP6) | ENSP00000334552.2:n.610+2974A>G | |
| ENST00000417454.5:c.664+614A>G (GP6) MANE Select | ENSP00000394922.1:n.664+614A>G | |
| NM_001083899.2:c.664+614A>G , LRG_560t3:c.664+614A>G (GP6) | NP_001077368.2:n.664+614A>G | |
| NM_001256017.2:c.610+2974A>G , LRG_560t2:c.610+2974A>G (GP6) | NP_001242946.2:n.610+2974A>G | |
| NM_016363.5:c.664+614A>G , LRG_560t1:c.664+614A>G (GP6) MANE Select | NP_057447.5:n.664+614A>G | |
| XR_001754012.2:n.312+18140T>C (GP6-AS1) | ||
| XR_001754013.2:n.305+18140T>C (GP6-AS1) |