Linked Data
gnomAD v4:
5-136056678-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056678G>T , CM000667.2:g.136056678G>T | GRCh38 |
| NC_000005.9:g.135392367G>T , CM000667.1:g.135392367G>T | GRCh37 |
| NC_000005.8:g.135420266G>T | NCBI36 |
| NG_012646.1:g.32784G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1561G>T MANE Select | ENSP00000416330.2:p.Ala521Ser | |
| ENST00000442011.6:c.1561G>T | ENSP00000416330.2:p.Ala521Ser | |
| ENST00000506699.5:n.2078G>T | ||
| ENST00000507018.5:c.1539G>T | ||
| ENST00000509485.5:c.558G>T | ||
| ENST00000514242.5:n.332G>T | ||
| ENST00000514554.5:c.713G>T | ||
| NM_000358.2:c.1561G>T | NP_000349.1:p.Ala521Ser | |
| NM_000358.3:c.1561G>T MANE Select | NP_000349.1:p.Ala521Ser |