Linked Data
dbSNP Id:
rs2292342
gnomAD v2:
19-49118371-G-A
gnomAD v3:
19-48615114-G-A
gnomAD v4:
19-48615114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48615114G>A , CM000681.2:g.48615114G>A | GRCh38 |
| NC_000019.9:g.49118371G>A , CM000681.1:g.49118371G>A | GRCh37 |
| NC_000019.8:g.53810183G>A | NCBI36 |
| NG_029867.1:g.824G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_024451561.1:c.-1561C>T | XP_024307329.1:n.-1561C>T |