Linked Data
ClinVar Variation Id:
768267
dbSNP Id:
rs2292779
ExAC:
8:141561393 G / C
gnomAD v2:
8-141561393-G-C
gnomAD v3:
8-140551294-G-C
gnomAD v4:
8-140551294-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.140551294G>C , CM000670.2:g.140551294G>C | GRCh38 |
| NC_000008.10:g.141561393G>C , CM000670.1:g.141561393G>C | GRCh37 |
| NC_000008.9:g.141630575G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220592.10:c.1403+9C>G MANE Select | ENSP00000220592.5:n.1403+9C>G | |
| ENST00000220592.9:c.1403+9C>G | ENSP00000220592.5:n.1403+9C>G | |
| ENST00000519980.5:c.1403+9C>G | ENSP00000430176.1:n.1403+9C>G | |
| ENST00000523609.5:c.*988+9C>G | ENSP00000430164.1:n.*988+9C>G | |
| NM_001164623.1:c.1403+9C>G | NP_001158095.1:n.1403+9C>G | |
| NM_012154.3:c.1403+9C>G | NP_036286.2:n.1403+9C>G | |
| XM_011516964.1:c.1490+9C>G | XP_011515266.1:n.1490+9C>G | |
| XM_011516965.1:c.1445+9C>G | XP_011515267.1:n.1445+9C>G | |
| XM_011516966.1:c.1265+9C>G | XP_011515268.1:n.1265+9C>G | |
| XM_011516967.1:c.1172+9C>G | XP_011515269.1:n.1172+9C>G | |
| XM_011516968.1:c.1265+9C>G | XP_011515270.1:n.1265+9C>G | |
| NM_001164623.2:c.1403+9C>G | NP_001158095.1:n.1403+9C>G | |
| NM_012154.4:c.1403+9C>G | NP_036286.2:n.1403+9C>G | |
| XM_011516965.2:c.1445+9C>G | XP_011515267.1:n.1445+9C>G | |
| XM_011516966.3:c.1265+9C>G | XP_011515268.1:n.1265+9C>G | |
| XM_011516968.2:c.1580+9C>G | XP_011515270.2:n.1580+9C>G | |
| XM_017013317.2:c.1172+9C>G | XP_016868806.1:n.1172+9C>G | |
| NM_012154.5:c.1403+9C>G MANE Select | NP_036286.2:n.1403+9C>G | |
| NM_001164623.3:c.1403+9C>G | NP_001158095.1:n.1403+9C>G |