Linked Data
gnomAD v4:
14-96204962-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204962G>T , CM000676.2:g.96204962G>T | GRCh38 |
| NC_000014.8:g.96671299G>T , CM000676.1:g.96671299G>T | GRCh37 |
| NC_000014.7:g.95741052G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.-40+3G>T MANE Select | ENSP00000450482.1:n.-40+3G>T | |
| ENST00000539359.1:c.-282+3G>T | ENSP00000438376.1:n.-282+3G>T | |
| ENST00000542454.2:c.-2808+3G>T | ENSP00000439459.2:n.-2808+3G>T | |
| ENST00000553811.1:c.-35+3G>T | ENSP00000450984.1:n.-35+3G>T | |
| ENST00000554311.1:c.-40+3G>T | ENSP00000450482.1:n.-40+3G>T | |
| NM_000623.3:c.-35+3G>T | NP_000614.1:n.-35+3G>T | |
| NM_000623.4:c.-35+3G>T | NP_000614.1:n.-35+3G>T | |
| NM_001379692.1:c.-40+3G>T MANE Select | NP_001366621.1:n.-40+3G>T |