Linked Data
gnomAD v4:
14-96204929-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204929T>C , CM000676.2:g.96204929T>C | GRCh38 |
| NC_000014.8:g.96671266T>C , CM000676.1:g.96671266T>C | GRCh37 |
| NC_000014.7:g.95741019T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.-70T>C MANE Select | ENSP00000450482.1:n.-70T>C | |
| ENST00000539359.1:c.-312T>C | ENSP00000438376.1:n.-312T>C | |
| ENST00000542454.2:c.-2838T>C | ENSP00000439459.2:n.-2838T>C | |
| ENST00000553811.1:c.-65T>C | ENSP00000450984.1:n.-65T>C | |
| ENST00000554311.1:c.-70T>C | ENSP00000450482.1:n.-70T>C | |
| NM_000623.3:c.-65T>C | NP_000614.1:n.-65T>C | |
| NM_000623.4:c.-65T>C | NP_000614.1:n.-65T>C | |
| NM_001379692.1:c.-70T>C MANE Select | NP_001366621.1:n.-70T>C |