Linked Data
gnomAD v4:
14-49621699-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621699T>A , CM000676.2:g.49621699T>A | GRCh38 |
| NC_000014.8:g.50088417T>A , CM000676.1:g.50088417T>A | GRCh37 |
| NC_000014.7:g.49158167T>A | NCBI36 |
| NG_008920.1:g.5929T>A | |
| NG_033054.1:g.3933A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.431T>A MANE Select | ENSP00000307423.2:p.Ile144Asn | |
| ENST00000305386.3:c.431T>A | ENSP00000307423.2:p.Ile144Asn | |
| NM_002408.3:c.431T>A | NP_002399.1:p.Ile144Asn | |
| NM_002408.4:c.431T>A MANE Select | NP_002399.1:p.Ile144Asn |