Linked Data
dbSNP Id:
rs917118350
gnomAD v2:
8-110109761-C-G
gnomAD v3:
8-109097532-C-G
gnomAD v4:
8-109097532-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.109097532C>G , CM000670.2:g.109097532C>G | GRCh38 |
| NC_000008.10:g.110109761C>G , CM000670.1:g.110109761C>G | GRCh37 |
| NC_000008.9:g.110178937C>G | NCBI36 |
| NG_017161.1:g.15086C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518632.2:c.789+9231C>G MANE Select | ENSP00000430711.2:n.789+9231C>G | |
| ENST00000311762.2:c.789+9231C>G | ENSP00000309818.2:n.789+9231C>G | |
| ENST00000518632.1:c.789+9231C>G | ENSP00000430711.1:n.789+9231C>G | |
| NM_003301.5:c.789+9231C>G | NP_003292.1:n.789+9231C>G | |
| XM_011517263.1:c.789+9231C>G | XP_011515565.1:n.789+9231C>G | |
| XM_011517263.2:c.789+9231C>G | XP_011515565.1:n.789+9231C>G | |
| NM_003301.7:c.789+9231C>G MANE Select | NP_003292.1:n.789+9231C>G |