Linked Data
gnomAD v4:
17-58280462-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280462G>A , CM000679.2:g.58280462G>A | GRCh38 |
| NC_000017.10:g.56357823G>A , CM000679.1:g.56357823G>A | GRCh37 |
| NC_000017.9:g.53712822G>A | NCBI36 |
| NG_009629.1:g.5474C>T , LRG_84:g.5474C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225275.4:c.155-3C>T MANE Select | ENSP00000225275.3:n.155-3C>T | |
| ENST00000225275.3:c.155-3C>T | ENSP00000225275.3:n.155-3C>T | |
| ENST00000580005.1:n.84-3C>T | ||
| NM_000250.1:c.155-3C>T , LRG_84t1:c.155-3C>T | NP_000241.1:n.155-3C>T | |
| XM_011524821.1:c.341-3C>T | XP_011523123.1:n.341-3C>T | |
| XM_011524822.1:c.-38+143C>T | XP_011523124.1:n.-38+143C>T | |
| XM_011524823.1:c.341-3C>T | XP_011523125.1:n.341-3C>T | |
| NM_000250.2:c.155-3C>T MANE Select | NP_000241.1:n.155-3C>T |