gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61764103G>T , CM000664.2:g.61764103G>T | GRCh38 |
| NC_000002.11:g.61991238G>T , CM000664.1:g.61991238G>T | GRCh37 |
| NC_000002.10:g.61844742G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939724.1:n.4220-18980C>A | ||
| XR_001739092.1:n.493C>A |