Linked Data
dbSNP Id:
rs769512877
ExAC:
9:133364877 C / G
gnomAD v2:
9-133364877-C-G
gnomAD v4:
9-130489490-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489490C>G , CM000671.2:g.130489490C>G | GRCh38 |
| NC_000009.11:g.133364877C>G , CM000671.1:g.133364877C>G | GRCh37 |
| NC_000009.10:g.132354698C>G | NCBI36 |
| NG_011542.1:g.49784C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.970+26C>G MANE Select | ENSP00000253004.6:n.970+26C>G | |
| ENST00000352480.9:c.970+26C>G | ENSP00000253004.6:n.970+26C>G | |
| ENST00000372386.6:n.241+26C>G | ||
| ENST00000372393.7:c.970+26C>G | ENSP00000361469.2:n.970+26C>G | |
| ENST00000372394.5:c.970+26C>G | ENSP00000361471.1:n.970+26C>G | |
| NM_000050.4:c.970+26C>G | NP_000041.2:n.970+26C>G | |
| NM_054012.3:c.970+26C>G | NP_446464.1:n.970+26C>G | |
| XM_005272200.2:c.970+26C>G | XP_005272257.1:n.970+26C>G | |
| XM_011518705.1:c.1084+26C>G | XP_011517007.1:n.1084+26C>G | |
| XM_005272200.3:c.970+26C>G | XP_005272257.1:n.970+26C>G | |
| XM_011518705.2:c.1084+26C>G | XP_011517007.1:n.1084+26C>G | |
| XM_017014729.1:c.1066+26C>G | XP_016870218.1:n.1066+26C>G | |
| NM_054012.4:c.970+26C>G MANE Select | NP_446464.1:n.970+26C>G |