Linked Data
gnomAD v4:
17-56594636-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594636G>T , CM000679.2:g.56594636G>T | GRCh38 |
| NC_000017.10:g.54671997G>T , CM000679.1:g.54671997G>T | GRCh37 |
| NC_000017.9:g.52026996G>T | NCBI36 |
| NG_011958.1:g.5938G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.413G>T MANE Select | ENSP00000328181.4:p.Ser138Ile | |
| ENST00000332822.4:c.413G>T | ENSP00000328181.4:p.Ser138Ile | |
| NM_005450.4:c.413G>T | NP_005441.1:p.Ser138Ile | |
| NM_005450.6:c.413G>T MANE Select | NP_005441.1:p.Ser138Ile |