Linked Data
gnomAD v4:
17-58280903-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280903G>T , CM000679.2:g.58280903G>T | GRCh38 |
| NC_000017.10:g.56358264G>T , CM000679.1:g.56358264G>T | GRCh37 |
| NC_000017.9:g.53713263G>T | NCBI36 |
| NG_009629.1:g.5033C>A , LRG_84:g.5033C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225275.4:c.-145C>A MANE Select | ENSP00000225275.3:n.-145C>A | |
| ENST00000225275.3:c.-145C>A | ENSP00000225275.3:n.-145C>A | |
| NM_000250.1:c.-145C>A , LRG_84t1:c.-145C>A | NP_000241.1:n.-145C>A | |
| XM_011524821.1:c.215+22C>A | XP_011523123.1:n.215+22C>A | |
| XM_011524823.1:c.215+22C>A | XP_011523125.1:n.215+22C>A | |
| NM_000250.2:c.-145C>A MANE Select | NP_000241.1:n.-145C>A |