Linked Data
dbSNP Id:
rs367614890
ExAC:
14:20925288 G / A
gnomAD v2:
14-20925288-G-A
gnomAD v3:
14-20457129-G-A
gnomAD v4:
14-20457129-G-A
COSMIC:
COSM73694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457129G>A , CM000676.2:g.20457129G>A | GRCh38 |
| NC_000014.8:g.20925288G>A , CM000676.1:g.20925288G>A | GRCh37 |
| NC_000014.7:g.19995128G>A | NCBI36 |
| NG_008718.1:g.6999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.578G>A MANE Select | ENSP00000216714.3:p.Arg193His | |
| ENST00000216714.7:c.578G>A | ENSP00000216714.3:p.Arg193His | |
| ENST00000398030.8:c.578G>A | ENSP00000381111.4:p.Arg193His | |
| ENST00000438886.1:c.358G>A | ||
| ENST00000553555.5:n.998G>A | ||
| ENST00000553681.5:c.578G>A | ENSP00000451327.1:p.Arg193His | |
| ENST00000554813.5:n.644G>A | ||
| ENST00000555414.5:c.578G>A | ENSP00000451979.1:p.Arg193His | |
| ENST00000555839.5:c.491G>A | ENSP00000452460.1:p.Arg164His | |
| ENST00000557054.1:c.34G>A | ENSP00000452212.2:p.Ala12Thr | |
| ENST00000557159.5:n.1194G>A | ||
| ENST00000557365.1:n.658G>A | ||
| NM_001244249.1:c.578G>A | NP_001231178.1:p.Arg193His | |
| NM_001641.3:c.578G>A | NP_001632.2:p.Arg193His | |
| NM_080648.2:c.578G>A | NP_542379.1:p.Arg193His | |
| NM_080649.2:c.578G>A | NP_542380.1:p.Arg193His | |
| XM_005267581.3:c.578G>A | XP_005267638.1:p.Arg193His | |
| XM_005267582.3:c.527G>A | XP_005267639.1:p.Arg176His | |
| NM_001641.4:c.578G>A MANE Select | NP_001632.2:p.Arg193His | |
| NM_001244249.2:c.578G>A | NP_001231178.1:p.Arg193His | |
| NM_080648.3:c.578G>A | NP_542379.1:p.Arg193His | |
| NM_080649.3:c.578G>A | NP_542380.1:p.Arg193His |