Linked Data
dbSNP Id:
rs952378060
gnomAD v4:
14-93218379-C-T
MyVariant Identifiers:
chr14:g.93218379C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218379C>T , CM000676.2:g.93218379C>T | GRCh38 |
| NC_000014.8:g.93684725C>T , CM000676.1:g.93684725C>T | GRCh37 |
| NC_000014.7:g.92754478C>T | NCBI36 |
| NG_051089.1:g.16324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.602-148C>T MANE Select | ENSP00000013070.6:n.602-148C>T | |
| ENST00000013070.10:c.602-148C>T | ENSP00000013070.6:n.602-148C>T | |
| ENST00000416753.5:c.374-148C>T | ENSP00000391706.2:n.374-148C>T | |
| ENST00000553674.1:c.*303-148C>T | ENSP00000450470.1:n.*303-148C>T | |
| ENST00000553857.5:c.378+3098C>T | ||
| ENST00000554232.5:c.506-148C>T | ENSP00000450645.1:n.506-148C>T | |
| ENST00000556871.5:c.311-148C>T | ENSP00000451022.1:n.311-148C>T | |
| ENST00000557048.1:n.511-148C>T | ||
| NM_175748.3:c.602-148C>T | NP_786924.2:n.602-148C>T | |
| NR_038150.1:n.704-148C>T | ||
| NM_175748.4:c.602-148C>T MANE Select | NP_786924.2:n.602-148C>T | |
| NR_038150.2:n.504-148C>T |