Linked Data
ClinVar Variation Id:
127059
ClinVar RCV Id:
RCV000114925
dbSNP Id:
rs104894987
ExAC:
14:20925151 C / T
gnomAD v2:
14-20925151-C-T
gnomAD v3:
14-20456992-C-T
gnomAD v4:
14-20456992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20456992C>T , CM000676.2:g.20456992C>T | GRCh38 |
| NC_000014.8:g.20925151C>T , CM000676.1:g.20925151C>T | GRCh37 |
| NC_000014.7:g.19994991C>T | NCBI36 |
| NG_008718.1:g.6862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.441C>T MANE Select | ENSP00000216714.3:p.Gly147= | |
| ENST00000216714.7:c.441C>T | ENSP00000216714.3:p.Gly147= | |
| ENST00000398030.8:c.441C>T | ENSP00000381111.4:p.Gly147= | |
| ENST00000438886.1:c.289-68C>T | ||
| ENST00000553555.5:n.861C>T | ||
| ENST00000553681.5:c.441C>T | ENSP00000451327.1:p.Gly147= | |
| ENST00000554813.5:n.507C>T | ||
| ENST00000555306.5:n.888C>T | ||
| ENST00000555414.5:c.441C>T | ENSP00000451979.1:p.Gly147= | |
| ENST00000555839.5:c.440-86C>T | ENSP00000452460.1:n.440-86C>T | |
| ENST00000556054.5:c.441C>T | ENSP00000451170.1:p.Gly147= | |
| ENST00000557054.1:c.28-131C>T | ENSP00000452212.2:n.28-131C>T | |
| ENST00000557150.5:c.390C>T | ENSP00000452418.1:p.Gly130= | |
| ENST00000557159.5:n.1057C>T | ||
| ENST00000557365.1:n.521C>T | ||
| ENST00000557592.5:c.390C>T | ENSP00000451060.1:p.Gly130= | |
| NM_001244249.1:c.441C>T | NP_001231178.1:p.Gly147= | |
| NM_001641.3:c.441C>T | NP_001632.2:p.Gly147= | |
| NM_080648.2:c.441C>T | NP_542379.1:p.Gly147= | |
| NM_080649.2:c.441C>T | NP_542380.1:p.Gly147= | |
| XM_005267581.3:c.441C>T | XP_005267638.1:p.Gly147= | |
| XM_005267582.3:c.390C>T | XP_005267639.1:p.Gly130= | |
| NM_001641.4:c.441C>T MANE Select | NP_001632.2:p.Gly147= | |
| NM_001244249.2:c.441C>T | NP_001231178.1:p.Gly147= | |
| NM_080648.3:c.441C>T | NP_542379.1:p.Gly147= | |
| NM_080649.3:c.441C>T | NP_542380.1:p.Gly147= |