Linked Data
dbSNP Id:
rs772989476
ExAC:
2:10188378 C / A
gnomAD v2:
2-10188378-C-A
gnomAD v4:
2-10048251-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10048251C>A , CM000664.2:g.10048251C>A | GRCh38 |
| NC_000002.11:g.10188378C>A , CM000664.1:g.10188378C>A | GRCh37 |
| NC_000002.10:g.10105829C>A | NCBI36 |
| NG_017199.1:g.9697C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.914C>A MANE Select | ENSP00000307023.1:p.Pro305His | |
| ENST00000305883.5:c.914C>A | ENSP00000307023.1:p.Pro305His | |
| ENST00000535335.1:c.863C>A | ENSP00000442722.1:p.Pro288His | |
| ENST00000540845.5:c.863C>A | ENSP00000444690.1:p.Pro288His | |
| NM_001177716.1:c.863C>A | NP_001171187.1:p.Pro288His | |
| NM_001177718.1:c.863C>A | NP_001171189.1:p.Pro288His | |
| NM_003597.4:c.914C>A | NP_003588.1:p.Pro305His | |
| XM_005246179.3:c.863C>A | XP_005246236.1:p.Pro288His | |
| NM_003597.5:c.914C>A MANE Select | NP_003588.1:p.Pro305His | |
| NM_001177716.2:c.863C>A | NP_001171187.1:p.Pro288His | |
| NM_001177718.2:c.863C>A | NP_001171189.1:p.Pro288His |