Linked Data
gnomAD v4:
14-49621881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621881G>A , CM000676.2:g.49621881G>A | GRCh38 |
| NC_000014.8:g.50088599G>A , CM000676.1:g.50088599G>A | GRCh37 |
| NC_000014.7:g.49158349G>A | NCBI36 |
| NG_008920.1:g.6111G>A | |
| NG_033054.1:g.3751C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305386.4:c.613G>A MANE Select | ENSP00000307423.2:p.Ala205Thr | |
| ENST00000305386.3:c.613G>A | ENSP00000307423.2:p.Ala205Thr | |
| NM_002408.3:c.613G>A | NP_002399.1:p.Ala205Thr | |
| NM_002408.4:c.613G>A MANE Select | NP_002399.1:p.Ala205Thr |