Linked Data
dbSNP Id:
rs558381137
ExAC:
4:56225504 C / G
gnomAD v2:
4-56225504-C-G
gnomAD v3:
4-55359337-C-G
gnomAD v4:
4-55359337-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55359337C>G , CM000666.2:g.55359337C>G | GRCh38 |
| NC_000004.11:g.56225504C>G , CM000666.1:g.56225504C>G | GRCh37 |
| NC_000004.10:g.55920261C>G | NCBI36 |
| NG_028230.1:g.18117C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.222-9C>G MANE Select | ENSP00000264228.4:n.222-9C>G | |
| ENST00000678717.1:n.119-9C>G | ||
| ENST00000679351.1:c.222-9C>G | ENSP00000505676.1:n.222-9C>G | |
| ENST00000679707.1:c.222-9C>G | ENSP00000505713.1:n.222-9C>G | |
| ENST00000679836.1:c.222-9C>G | ENSP00000506601.1:n.222-9C>G | |
| ENST00000680700.1:c.222-9C>G | ENSP00000504926.1:n.222-9C>G | |
| ENST00000264228.8:c.222-9C>G | ENSP00000264228.4:n.222-9C>G | |
| ENST00000505210.1:c.147-9C>G | ENSP00000424714.1:n.147-9C>G | |
| ENST00000514398.1:n.231-9C>G | ||
| NM_024592.4:c.222-9C>G | NP_078868.1:n.222-9C>G | |
| XM_005265766.2:c.222-9C>G | XP_005265823.1:n.222-9C>G | |
| XM_005265767.2:c.222-9C>G | XP_005265824.1:n.222-9C>G | |
| XM_005265766.4:c.222-9C>G | XP_005265823.1:n.222-9C>G | |
| XM_005265767.3:c.222-9C>G | XP_005265824.1:n.222-9C>G | |
| XM_017008601.1:c.87-9C>G | XP_016864090.1:n.87-9C>G | |
| NM_024592.5:c.222-9C>G MANE Select | NP_078868.1:n.222-9C>G |