Linked Data
dbSNP Id:
rs764472757
ExAC:
14:20925184 T / C
gnomAD v2:
14-20925184-T-C
gnomAD v3:
14-20457025-T-C
gnomAD v4:
14-20457025-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457025T>C , CM000676.2:g.20457025T>C | GRCh38 |
| NC_000014.8:g.20925184T>C , CM000676.1:g.20925184T>C | GRCh37 |
| NC_000014.7:g.19995024T>C | NCBI36 |
| NG_008718.1:g.6895T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.474T>C MANE Select | ENSP00000216714.3:p.Ile158= | |
| ENST00000216714.7:c.474T>C | ENSP00000216714.3:p.Ile158= | |
| ENST00000398030.8:c.474T>C | ENSP00000381111.4:p.Ile158= | |
| ENST00000438886.1:c.289-35T>C | ||
| ENST00000553555.5:n.894T>C | ||
| ENST00000553681.5:c.474T>C | ENSP00000451327.1:p.Ile158= | |
| ENST00000554813.5:n.540T>C | ||
| ENST00000555414.5:c.474T>C | ENSP00000451979.1:p.Ile158= | |
| ENST00000555839.5:c.440-53T>C | ENSP00000452460.1:n.440-53T>C | |
| ENST00000556054.5:c.474T>C | ENSP00000451170.1:p.Ile158= | |
| ENST00000557054.1:c.28-98T>C | ENSP00000452212.2:n.28-98T>C | |
| ENST00000557150.5:c.423T>C | ENSP00000452418.1:p.Ile141= | |
| ENST00000557159.5:n.1090T>C | ||
| ENST00000557365.1:n.554T>C | ||
| ENST00000557592.5:c.423T>C | ENSP00000451060.1:p.Ile141= | |
| NM_001244249.1:c.474T>C | NP_001231178.1:p.Ile158= | |
| NM_001641.3:c.474T>C | NP_001632.2:p.Ile158= | |
| NM_080648.2:c.474T>C | NP_542379.1:p.Ile158= | |
| NM_080649.2:c.474T>C | NP_542380.1:p.Ile158= | |
| XM_005267581.3:c.474T>C | XP_005267638.1:p.Ile158= | |
| XM_005267582.3:c.423T>C | XP_005267639.1:p.Ile141= | |
| NM_001641.4:c.474T>C MANE Select | NP_001632.2:p.Ile158= | |
| NM_001244249.2:c.474T>C | NP_001231178.1:p.Ile158= | |
| NM_080648.3:c.474T>C | NP_542379.1:p.Ile158= | |
| NM_080649.3:c.474T>C | NP_542380.1:p.Ile158= |