Linked Data
dbSNP Id:
rs800872
gnomAD v2:
8-116459401-T-C
gnomAD v3:
8-115447173-T-C
gnomAD v4:
8-115447173-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115447173T>C , CM000670.2:g.115447173T>C | GRCh38 |
| NC_000008.10:g.116459401T>C , CM000670.1:g.116459401T>C | GRCh37 |
| NC_000008.9:g.116528578T>C | NCBI36 |
| NG_012383.3:g.226829A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395715.8:c.2701-28721A>G MANE Select | ENSP00000379065.3:n.2701-28721A>G | |
| ENST00000640765.1:c.2662-28721A>G | ENSP00000492037.1:n.2662-28721A>G | |
| ENST00000220888.9:c.2662-28721A>G | ENSP00000220888.5:n.2662-28721A>G | |
| ENST00000395715.7:c.2701-28721A>G | ENSP00000379065.3:n.2701-28721A>G | |
| ENST00000518018.1:c.35-28721A>G | ||
| ENST00000519076.5:c.1924-28721A>G | ENSP00000428910.1:n.1924-28721A>G | |
| ENST00000520276.5:c.2674-28721A>G | ENSP00000428680.1:n.2674-28721A>G | |
| NM_001282902.2:c.2674-28721A>G | NP_001269831.1:n.2674-28721A>G | |
| NM_001282903.2:c.2680-28721A>G | NP_001269832.1:n.2680-28721A>G | |
| NM_014112.4:c.2701-28721A>G | NP_054831.2:n.2701-28721A>G | |
| XM_005251049.2:c.2662-28721A>G | XP_005251106.1:n.2662-28721A>G | |
| XM_006716625.1:c.2701-28721A>G | XP_006716688.1:n.2701-28721A>G | |
| XM_011517264.1:c.2701-28721A>G | XP_011515566.1:n.2701-28721A>G | |
| XM_011517265.1:c.2701-28721A>G | XP_011515567.1:n.2701-28721A>G | |
| XM_011517266.1:c.2701-28721A>G | XP_011515568.1:n.2701-28721A>G | |
| XM_011517267.1:c.2680-28721A>G | XP_011515569.1:n.2680-28721A>G | |
| XM_011517268.1:c.2662-28721A>G | XP_011515570.1:n.2662-28721A>G | |
| NM_001330599.1:c.2662-28721A>G | NP_001317528.1:n.2662-28721A>G | |
| XM_011517264.2:c.2701-28721A>G | XP_011515566.1:n.2701-28721A>G | |
| XM_011517266.3:c.2701-28721A>G | XP_011515568.1:n.2701-28721A>G | |
| XM_011517268.2:c.2662-28721A>G | XP_011515570.1:n.2662-28721A>G | |
| NM_001282902.3:c.2674-28721A>G | NP_001269831.1:n.2674-28721A>G | |
| NM_001282903.3:c.2680-28721A>G | NP_001269832.1:n.2680-28721A>G | |
| NM_001330599.2:c.2662-28721A>G | NP_001317528.1:n.2662-28721A>G | |
| NM_014112.5:c.2701-28721A>G MANE Select | NP_054831.2:n.2701-28721A>G |