Linked Data
dbSNP Id:
rs777181948
ExAC:
16:1560956 C / G
gnomAD v2:
16-1560956-C-G
gnomAD v4:
16-1510955-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510955C>G , CM000678.2:g.1510955C>G | GRCh38 |
| NC_000016.9:g.1560956C>G , CM000678.1:g.1560956C>G | GRCh37 |
| NC_000016.8:g.1500957C>G | NCBI36 |
| NG_032783.1:g.106154G>C | |
| NG_050910.1:g.22612C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4378G>C MANE Select | ENSP00000406012.2:p.Asp1460His | |
| ENST00000361339.9:c.1960G>C | ENSP00000354895.5:p.Asp654His | |
| ENST00000397417.6:c.*2816G>C | ENSP00000380562.2:n.*2816G>C | |
| ENST00000426508.6:c.4378G>C | ENSP00000406012.2:p.Asp1460His | |
| ENST00000565298.5:n.4202G>C | ||
| NM_014714.3:c.4378G>C | NP_055529.2:p.Asp1460His | |
| XM_006720989.2:c.4378G>C | XP_006721052.1:p.Asp1460His | |
| XM_006720990.2:c.4378G>C | XP_006721053.1:p.Asp1460His | |
| XM_006720991.2:c.4378G>C | XP_006721054.1:p.Asp1460His | |
| XM_006720992.2:c.2011G>C | XP_006721055.1:p.Asp671His | |
| XM_011522766.1:c.4132G>C | XP_011521068.1:p.Asp1378His | |
| XM_011522767.1:c.3403G>C | XP_011521069.1:p.Asp1135His | |
| XM_006720990.3:c.4378G>C | XP_006721053.1:p.Asp1460His | |
| XM_006720991.3:c.4378G>C | XP_006721054.1:p.Asp1460His | |
| XM_006720992.3:c.2011G>C | XP_006721055.1:p.Asp671His | |
| XM_011522766.3:c.4132G>C | XP_011521068.1:p.Asp1378His | |
| XM_011522767.2:c.3403G>C | XP_011521069.1:p.Asp1135His | |
| XM_017023910.1:c.4378G>C | XP_016879399.1:p.Asp1460His | |
| XM_017023911.1:c.2563G>C | XP_016879400.1:p.Asp855His | |
| NM_014714.4:c.4378G>C MANE Select | NP_055529.2:p.Asp1460His |