Linked Data
gnomAD v4:
17-58280895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280895G>A , CM000679.2:g.58280895G>A | GRCh38 |
| NC_000017.10:g.56358256G>A , CM000679.1:g.56358256G>A | GRCh37 |
| NC_000017.9:g.53713255G>A | NCBI36 |
| NG_009629.1:g.5041C>T , LRG_84:g.5041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225275.4:c.-137C>T MANE Select | ENSP00000225275.3:n.-137C>T | |
| ENST00000225275.3:c.-137C>T | ENSP00000225275.3:n.-137C>T | |
| NM_000250.1:c.-137C>T , LRG_84t1:c.-137C>T | NP_000241.1:n.-137C>T | |
| XM_011524821.1:c.215+30C>T | XP_011523123.1:n.215+30C>T | |
| XM_011524823.1:c.215+30C>T | XP_011523125.1:n.215+30C>T | |
| NM_000250.2:c.-137C>T MANE Select | NP_000241.1:n.-137C>T |