Linked Data
gnomAD v4:
5-55232926-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232926G>T , CM000667.2:g.55232926G>T | GRCh38 |
| NC_000005.9:g.54528754G>T , CM000667.1:g.54528754G>T | GRCh37 |
| NC_000005.8:g.54564511G>T | NCBI36 |
| NG_034201.1:g.5792C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+217C>A MANE Select | ENSP00000282572.4:n.381+217C>A | |
| ENST00000282572.4:c.381+217C>A | ENSP00000282572.4:n.381+217C>A | |
| ENST00000501463.2:c.*202C>A | ENSP00000422485.1:n.*202C>A | |
| NM_021147.4:c.381+217C>A | NP_066970.3:n.381+217C>A | |
| NR_125346.1:n.792C>A | ||
| NR_125347.1:n.580+212C>A | ||
| NR_125348.1:n.66C>A | ||
| NM_021147.5:c.381+217C>A MANE Select | NP_066970.3:n.381+217C>A | |
| NR_125346.2:n.683C>A | ||
| NR_125347.2:n.471+212C>A |