gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102481791A>C , CM000674.2:g.102481791A>C | GRCh38 |
| NC_000012.11:g.102875569A>C , CM000674.1:g.102875569A>C | GRCh37 |
| NC_000012.10:g.101399699A>C | NCBI36 |
| NG_011713.1:g.3810T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017019259.1:c.26T>G | XP_016874748.1:p.Val9Gly | |
| XM_017019262.2:c.26T>G | XP_016874751.1:p.Val9Gly | |
| XM_017019263.2:c.26T>G | XP_016874752.1:p.Val9Gly |