Linked Data
ClinVar Variation Id:
317055
ClinVar RCV Id:
RCV000380387
dbSNP Id:
rs886051464
gnomAD v3:
15-72376179-T-C
gnomAD v4:
15-72376179-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376179T>C , CM000677.2:g.72376179T>C | GRCh38 |
| NC_000015.9:g.72668520T>C , CM000677.1:g.72668520T>C | GRCh37 |
| NC_000015.8:g.70455574T>C | NCBI36 |
| NG_009017.1:g.5001A>G | |
| NG_009017.2:g.5001A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268097.9:c.-207A>G (HEXA) | ENSP00000268097.5:n.-207A>G | |
| ENST00000569509.5:n.146+96A>G (HEXA) | ||
| NM_000520.4:c.-207A>G (HEXA) | NP_000511.2:n.-207A>G | |
| NR_027262.1:n.67T>C (HEXA-AS1) | ||
| NM_000520.5:c.-207A>G (HEXA) | NP_000511.2:n.-207A>G | |
| NM_001318825.1:c.-207A>G (HEXA) | NP_001305754.1:n.-207A>G | |
| NR_134869.1:n.295A>G (HEXA) |