Linked Data
gnomAD v4:
14-96204862-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204862C>G , CM000676.2:g.96204862C>G | GRCh38 |
| NC_000014.8:g.96671199C>G , CM000676.1:g.96671199C>G | GRCh37 |
| NC_000014.7:g.95740952C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.-137C>G MANE Select | ENSP00000450482.1:n.-137C>G | |
| ENST00000539359.1:c.-379C>G | ENSP00000438376.1:n.-379C>G | |
| ENST00000542454.2:c.-2905C>G | ENSP00000439459.2:n.-2905C>G | |
| ENST00000553811.1:c.-132C>G | ENSP00000450984.1:n.-132C>G | |
| ENST00000554311.1:c.-137C>G | ENSP00000450482.1:n.-137C>G | |
| NM_000623.3:c.-132C>G | NP_000614.1:n.-132C>G | |
| NM_000623.4:c.-132C>G | NP_000614.1:n.-132C>G | |
| NM_001379692.1:c.-137C>G MANE Select | NP_001366621.1:n.-137C>G |