Canonical Allele Identifier:
CA996837350
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50845834G>T , CM000681.2:g.50845834G>T | GRCh38 |
| NC_000019.9:g.51349090G>T , CM000681.1:g.51349090G>T | GRCh37 |
| NC_000019.8:g.56040902G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131203.1:n.214-5077G>T | ||
| NR_131205.1:n.231-5077G>T | ||
| XR_936030.1:n.299-885G>T | ||
| XR_936031.1:n.299-885G>T | ||
| XR_936032.1:n.299-5077G>T | ||
| XR_936033.1:n.295-885G>T | ||
| XR_936035.1:n.282-885G>T |