Linked Data
dbSNP Id:
rs749845748
gnomAD v2:
14-20925012-C-A
gnomAD v3:
14-20456853-C-A
gnomAD v4:
14-20456853-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456853C>A , CM000676.2:g.20456853C>A | GRCh38 |
| NC_000014.8:g.20925012C>A , CM000676.1:g.20925012C>A | GRCh37 |
| NC_000014.7:g.19994852C>A | NCBI36 |
| NG_008718.1:g.6723C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.432C>A MANE Select | ENSP00000216714.3:p.Tyr144Ter | |
| ENST00000216714.7:c.432C>A | ENSP00000216714.3:p.Tyr144Ter | |
| ENST00000398030.8:c.432C>A | ENSP00000381111.4:p.Tyr144Ter | |
| ENST00000438886.1:c.281C>A | ||
| ENST00000553555.5:n.852C>A | ||
| ENST00000553681.5:c.432C>A | ENSP00000451327.1:p.Tyr144Ter | |
| ENST00000554813.5:n.498C>A | ||
| ENST00000555306.5:n.879C>A | ||
| ENST00000555414.5:c.432C>A | ENSP00000451979.1:p.Tyr144Ter | |
| ENST00000555839.5:c.432C>A | ENSP00000452460.1:p.Tyr144Ter | |
| ENST00000556054.5:c.432C>A | ENSP00000451170.1:p.Tyr144Ter | |
| ENST00000557054.1:c.28-270C>A | ENSP00000452212.2:n.28-270C>A | |
| ENST00000557150.5:c.381C>A | ENSP00000452418.1:p.Tyr127Ter | |
| ENST00000557159.5:n.1048C>A | ||
| ENST00000557344.5:c.432C>A | ENSP00000452137.1:p.Tyr144Ter | |
| ENST00000557365.1:n.512C>A | ||
| ENST00000557592.5:c.381C>A | ENSP00000451060.1:p.Tyr127Ter | |
| NM_001244249.1:c.432C>A | NP_001231178.1:p.Tyr144Ter | |
| NM_001641.3:c.432C>A | NP_001632.2:p.Tyr144Ter | |
| NM_080648.2:c.432C>A | NP_542379.1:p.Tyr144Ter | |
| NM_080649.2:c.432C>A | NP_542380.1:p.Tyr144Ter | |
| XM_005267581.3:c.432C>A | XP_005267638.1:p.Tyr144Ter | |
| XM_005267582.3:c.381C>A | XP_005267639.1:p.Tyr127Ter | |
| NM_001641.4:c.432C>A MANE Select | NP_001632.2:p.Tyr144Ter | |
| NM_001244249.2:c.432C>A | NP_001231178.1:p.Tyr144Ter | |
| NM_080648.3:c.432C>A | NP_542379.1:p.Tyr144Ter | |
| NM_080649.3:c.432C>A | NP_542380.1:p.Tyr144Ter |