Linked Data
gnomAD v4:
22-50578831-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50578831G>T , CM000684.2:g.50578831G>T | GRCh38 |
| NC_000022.10:g.51017260G>T , CM000684.1:g.51017260G>T | GRCh37 |
| NC_000022.9:g.49364126G>T | NCBI36 |
| NG_012643.1:g.4837C>A | |
| NG_029213.1:g.9169C>A , LRG_855:g.9169C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452668.1:n.320-172C>A | ||
| ENST00000453634.5:c.329-172C>A | ENSP00000457031.1:n.329-172C>A | |
| ENST00000492556.5:n.2189+205C>A | ||
| NR_027928.2:n.1551+205C>A |