Linked Data
gnomAD v4:
14-49621969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621969G>A , CM000676.2:g.49621969G>A | GRCh38 |
| NC_000014.8:g.50088687G>A , CM000676.1:g.50088687G>A | GRCh37 |
| NC_000014.7:g.49158437G>A | NCBI36 |
| NG_008920.1:g.6199G>A | |
| NG_033054.1:g.3663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305386.4:c.701G>A MANE Select | ENSP00000307423.2:p.Trp234Ter | |
| ENST00000305386.3:c.701G>A | ENSP00000307423.2:p.Trp234Ter | |
| NM_002408.3:c.701G>A | NP_002399.1:p.Trp234Ter | |
| NM_002408.4:c.701G>A MANE Select | NP_002399.1:p.Trp234Ter |