Linked Data
dbSNP Id:
rs376036465
ExAC:
8:18079946 G / C
gnomAD v2:
8-18079946-G-C
gnomAD v3:
8-18222437-G-C
gnomAD v4:
8-18222437-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18222437G>C , CM000670.2:g.18222437G>C | GRCh38 |
| NC_000008.10:g.18079946G>C , CM000670.1:g.18079946G>C | GRCh37 |
| NC_000008.9:g.18124226G>C | NCBI36 |
| NG_012245.2:g.56976G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307719.9:c.390G>C MANE Select | ENSP00000307218.4:p.Gln130His | |
| ENST00000545197.3:c.576G>C | ENSP00000443194.1:p.Gln192His | |
| ENST00000307719.8:c.390G>C | ENSP00000307218.4:p.Gln130His | |
| ENST00000517441.5:n.742G>C | ||
| ENST00000517492.5:c.390G>C | ENSP00000429407.1:p.Gln130His | |
| ENST00000518029.5:c.390G>C | ENSP00000428270.1:p.Gln130His | |
| ENST00000520546.1:c.390G>C | ENSP00000429341.1:p.Gln130His | |
| ENST00000541942.1:c.390G>C | ENSP00000440900.1:p.Gln130His | |
| ENST00000545197.2:c.576G>C | ENSP00000443194.1:p.Gln192His | |
| NM_000662.7:c.390G>C | NP_000653.3:p.Gln130His | |
| NM_001160170.3:c.390G>C | NP_001153642.1:p.Gln130His | |
| NM_001160171.3:c.390G>C | NP_001153643.1:p.Gln130His | |
| NM_001160172.3:c.390G>C | NP_001153644.1:p.Gln130His | |
| NM_001160173.3:c.390G>C | NP_001153645.1:p.Gln130His | |
| NM_001160174.2:c.390G>C | NP_001153646.1:p.Gln130His | |
| NM_001160175.3:c.576G>C | NP_001153647.1:p.Gln192His | |
| NM_001160176.3:c.576G>C | NP_001153648.1:p.Gln192His | |
| NM_001160179.2:c.390G>C | NP_001153651.1:p.Gln130His | |
| NM_001291962.1:c.576G>C | NP_001278891.1:p.Gln192His | |
| XM_006716410.2:c.390G>C | XP_006716473.1:p.Gln130His | |
| XM_011544687.1:c.576G>C | XP_011542989.1:p.Gln192His | |
| XM_011544688.1:c.576G>C | XP_011542990.1:p.Gln192His | |
| XM_011544689.1:c.390G>C | XP_011542991.1:p.Gln130His | |
| XM_006716410.3:c.390G>C | XP_006716473.1:p.Gln130His | |
| XM_011544689.2:c.390G>C | XP_011542991.1:p.Gln130His | |
| XM_017013947.1:c.576G>C | XP_016869436.1:p.Gln192His | |
| NM_000662.8:c.390G>C MANE Select | NP_000653.3:p.Gln130His | |
| NM_001160170.4:c.390G>C | NP_001153642.1:p.Gln130His | |
| NM_001160171.4:c.390G>C | NP_001153643.1:p.Gln130His | |
| NM_001160172.4:c.390G>C | NP_001153644.1:p.Gln130His | |
| NM_001160175.4:c.576G>C | NP_001153647.1:p.Gln192His | |
| NM_001160176.4:c.576G>C | NP_001153648.1:p.Gln192His | |
| NM_001160179.3:c.390G>C | NP_001153651.1:p.Gln130His | |
| NM_001291962.2:c.576G>C | NP_001278891.1:p.Gln192His | |
| NM_001160173.4:c.390G>C | NP_001153645.1:p.Gln130His | |
| NM_001160174.3:c.390G>C | NP_001153646.1:p.Gln130His |