Linked Data
dbSNP Id:
rs1845667005
gnomAD v3:
9-130464025-A-G
gnomAD v4:
9-130464025-A-G
COSMIC:
COSN24401900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130464025A>G , CM000671.2:g.130464025A>G | GRCh38 |
| NC_000009.11:g.133339412A>G , CM000671.1:g.133339412A>G | GRCh37 |
| NC_000009.10:g.132329233A>G | NCBI36 |
| NG_011542.1:g.24319A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.364-86A>G MANE Select | ENSP00000253004.6:n.364-86A>G | |
| ENST00000352480.9:c.364-86A>G | ENSP00000253004.6:n.364-86A>G | |
| ENST00000372393.7:c.364-86A>G | ENSP00000361469.2:n.364-86A>G | |
| ENST00000372394.5:c.364-86A>G | ENSP00000361471.1:n.364-86A>G | |
| ENST00000422569.5:c.364-86A>G | ENSP00000394212.1:n.364-86A>G | |
| ENST00000443588.1:c.364-2700A>G | ENSP00000397785.1:n.364-2700A>G | |
| ENST00000467695.5:n.73-86A>G | ||
| NM_000050.4:c.364-86A>G | NP_000041.2:n.364-86A>G | |
| NM_054012.3:c.364-86A>G | NP_446464.1:n.364-86A>G | |
| XM_005272200.2:c.364-86A>G | XP_005272257.1:n.364-86A>G | |
| XM_011518705.1:c.478-86A>G | XP_011517007.1:n.478-86A>G | |
| XM_005272200.3:c.364-86A>G | XP_005272257.1:n.364-86A>G | |
| XM_011518705.2:c.478-86A>G | XP_011517007.1:n.478-86A>G | |
| XM_017014729.1:c.460-86A>G | XP_016870218.1:n.460-86A>G | |
| NM_054012.4:c.364-86A>G MANE Select | NP_446464.1:n.364-86A>G |