Linked Data
gnomAD v4:
14-75005709-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005709T>A , CM000676.2:g.75005709T>A | GRCh38 |
| NC_000014.8:g.75472412T>A , CM000676.1:g.75472412T>A | GRCh37 |
| NC_000014.7:g.74542165T>A | NCBI36 |
| NG_013333.1:g.7801T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.598-157T>A MANE Select | ENSP00000266126.5:n.598-157T>A | |
| ENST00000266126.9:c.598-157T>A | ENSP00000266126.5:n.598-157T>A | |
| ENST00000553401.5:c.571-132T>A | ENSP00000451681.1:n.571-132T>A | |
| ENST00000556028.5:c.598-188T>A | ENSP00000452311.1:n.598-188T>A | |
| NM_014239.3:c.598-157T>A | NP_055054.1:n.598-157T>A | |
| NM_014239.4:c.598-157T>A MANE Select | NP_055054.1:n.598-157T>A |