Linked Data
dbSNP Id:
rs17737465
gnomAD v2:
8-98154441-A-G
gnomAD v3:
8-97142213-A-G
gnomAD v4:
8-97142213-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.97142213A>G , CM000670.2:g.97142213A>G | GRCh38 |
| NC_000008.10:g.98154441A>G , CM000670.1:g.98154441A>G | GRCh37 |
| NC_000008.9:g.98223617A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220763.10:c.1256-807A>G MANE Select | ENSP00000220763.5:n.1256-807A>G | |
| ENST00000220763.9:c.1256-807A>G | ENSP00000220763.5:n.1256-807A>G | |
| ENST00000522617.3:c.229-807A>G | ||
| NM_016134.3:c.1256-807A>G | NP_057218.1:n.1256-807A>G | |
| NR_125390.1:n.472-188603T>C | ||
| XM_005250755.1:c.1256-807A>G | XP_005250812.1:n.1256-807A>G | |
| XM_011516793.1:c.1256-807A>G | XP_011515095.1:n.1256-807A>G | |
| XM_011516794.1:c.1256-807A>G | XP_011515096.1:n.1256-807A>G | |
| XR_428374.1:n.1533-807A>G | ||
| XR_928286.1:n.1583-807A>G | ||
| NM_016134.4:c.1256-807A>G MANE Select | NP_057218.1:n.1256-807A>G |