Linked Data
dbSNP Id:
rs973730306
gnomAD v2:
14-20925075-C-G
gnomAD v3:
14-20456916-C-G
gnomAD v4:
14-20456916-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456916C>G , CM000676.2:g.20456916C>G | GRCh38 |
| NC_000014.8:g.20925075C>G , CM000676.1:g.20925075C>G | GRCh37 |
| NC_000014.7:g.19994915C>G | NCBI36 |
| NG_008718.1:g.6786C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.439+56C>G MANE Select | ENSP00000216714.3:n.439+56C>G | |
| ENST00000216714.7:c.439+56C>G | ENSP00000216714.3:n.439+56C>G | |
| ENST00000398030.8:c.439+56C>G | ENSP00000381111.4:n.439+56C>G | |
| ENST00000438886.1:c.288+56C>G | ||
| ENST00000553555.5:n.859+56C>G | ||
| ENST00000553681.5:c.439+56C>G | ENSP00000451327.1:n.439+56C>G | |
| ENST00000554813.5:n.505+56C>G | ||
| ENST00000555306.5:n.886+56C>G | ||
| ENST00000555414.5:c.439+56C>G | ENSP00000451979.1:n.439+56C>G | |
| ENST00000555839.5:c.439+56C>G | ENSP00000452460.1:n.439+56C>G | |
| ENST00000556054.5:c.439+56C>G | ENSP00000451170.1:n.439+56C>G | |
| ENST00000557054.1:c.28-207C>G | ENSP00000452212.2:n.28-207C>G | |
| ENST00000557150.5:c.388+56C>G | ENSP00000452418.1:n.388+56C>G | |
| ENST00000557159.5:n.1055+56C>G | ||
| ENST00000557365.1:n.519+56C>G | ||
| ENST00000557592.5:c.388+56C>G | ENSP00000451060.1:n.388+56C>G | |
| NM_001244249.1:c.439+56C>G | NP_001231178.1:n.439+56C>G | |
| NM_001641.3:c.439+56C>G | NP_001632.2:n.439+56C>G | |
| NM_080648.2:c.439+56C>G | NP_542379.1:n.439+56C>G | |
| NM_080649.2:c.439+56C>G | NP_542380.1:n.439+56C>G | |
| XM_005267581.3:c.439+56C>G | XP_005267638.1:n.439+56C>G | |
| XM_005267582.3:c.388+56C>G | XP_005267639.1:n.388+56C>G | |
| NM_001641.4:c.439+56C>G MANE Select | NP_001632.2:n.439+56C>G | |
| NM_001244249.2:c.439+56C>G | NP_001231178.1:n.439+56C>G | |
| NM_080648.3:c.439+56C>G | NP_542379.1:n.439+56C>G | |
| NM_080649.3:c.439+56C>G | NP_542380.1:n.439+56C>G |