Linked Data
dbSNP Id:
rs17589516
gnomAD v2:
6-38036420-A-G
gnomAD v3:
6-38068644-A-G
gnomAD v4:
6-38068644-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38068644A>G , CM000668.2:g.38068644A>G | GRCh38 |
| NC_000006.11:g.38036420A>G , CM000668.1:g.38036420A>G | GRCh37 |
| NC_000006.10:g.38144398A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287218.9:c.295+6869A>G MANE Select | ENSP00000287218.4:n.295+6869A>G | |
| ENST00000287218.8:c.295+6869A>G | ENSP00000287218.4:n.295+6869A>G | |
| ENST00000373389.5:c.224+6869A>G | ||
| ENST00000373391.6:c.295+6869A>G | ENSP00000362489.2:n.295+6869A>G | |
| ENST00000474522.5:c.388+6869A>G | ENSP00000420240.1:n.388+6869A>G | |
| NM_021943.2:c.295+6869A>G | NP_068762.1:n.295+6869A>G | |
| XM_005249269.1:c.295+6869A>G | XP_005249326.1:n.295+6869A>G | |
| XM_006715155.2:c.295+6869A>G | XP_006715218.1:n.295+6869A>G | |
| XM_011514790.1:c.295+6869A>G | XP_011513092.1:n.295+6869A>G | |
| XM_005249269.2:c.295+6869A>G | XP_005249326.1:n.295+6869A>G | |
| XM_011514790.2:c.295+6869A>G | XP_011513092.1:n.295+6869A>G | |
| XM_017011171.2:c.247+6869A>G | XP_016866660.1:n.247+6869A>G | |
| NM_021943.3:c.295+6869A>G MANE Select | NP_068762.1:n.295+6869A>G |