Linked Data
dbSNP Id:
rs1448124421
gnomAD v3:
14-93218436-A-G
gnomAD v4:
14-93218436-A-G
MyVariant Identifiers:
chr14:g.93218436A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218436A>G , CM000676.2:g.93218436A>G | GRCh38 |
| NC_000014.8:g.93684782A>G , CM000676.1:g.93684782A>G | GRCh37 |
| NC_000014.7:g.92754535A>G | NCBI36 |
| NG_051089.1:g.16381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.602-91A>G MANE Select | ENSP00000013070.6:n.602-91A>G | |
| ENST00000013070.10:c.602-91A>G | ENSP00000013070.6:n.602-91A>G | |
| ENST00000416753.5:c.374-91A>G | ENSP00000391706.2:n.374-91A>G | |
| ENST00000553674.1:c.*303-91A>G | ENSP00000450470.1:n.*303-91A>G | |
| ENST00000553857.5:c.378+3155A>G | ||
| ENST00000554232.5:c.506-91A>G | ENSP00000450645.1:n.506-91A>G | |
| ENST00000556871.5:c.311-91A>G | ENSP00000451022.1:n.311-91A>G | |
| ENST00000557048.1:n.511-91A>G | ||
| NM_175748.3:c.602-91A>G | NP_786924.2:n.602-91A>G | |
| NR_038150.1:n.704-91A>G | ||
| NM_175748.4:c.602-91A>G MANE Select | NP_786924.2:n.602-91A>G | |
| NR_038150.2:n.504-91A>G |