Linked Data
gnomAD v4:
19-35285013-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35285013T>A , CM000681.2:g.35285013T>A | GRCh38 |
| NC_000019.9:g.35775916T>A , CM000681.1:g.35775916T>A | GRCh37 |
| NC_000019.8:g.40467756T>A | NCBI36 |
| NG_011563.1:g.7507T>A | |
| NG_011563.2:g.7507T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222304.5:c.226T>A MANE Select | ENSP00000222304.2:p.Ser76Thr | |
| ENST00000222304.3:c.226T>A | ENSP00000222304.2:p.Ser76Thr | |
| ENST00000593580.1:n.2497T>A | ||
| ENST00000598398.5:c.226T>A | ENSP00000471894.1:p.Ser76Thr | |
| NM_021175.2:c.226T>A | NP_066998.1:p.Ser76Thr | |
| NM_021175.3:c.226T>A | NP_066998.1:p.Ser76Thr | |
| NM_021175.4:c.226T>A MANE Select | NP_066998.1:p.Ser76Thr |