Linked Data
dbSNP Id:
rs777866180
ExAC:
9:377027 G / C
gnomAD v2:
9-377027-G-C
gnomAD v4:
9-377027-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.377027G>C , CM000671.2:g.377027G>C | GRCh38 |
| NC_000009.11:g.377027G>C , CM000671.1:g.377027G>C | GRCh37 |
| NC_000009.10:g.367027G>C | NCBI36 |
| NG_017007.1:g.167163G>C , LRG_196:g.167163G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2052G>C | ENSP00000371766.2:p.Gln684His | |
| ENST00000382331.6:n.753G>C | ||
| ENST00000483757.6:c.*943G>C | ENSP00000417691.2:n.*943G>C | |
| ENST00000682260.1:n.2152G>C | ||
| ENST00000685949.1:n.1044G>C | ||
| ENST00000432829.7:c.2256G>C MANE Select | ENSP00000394888.3:p.Gln752His | |
| ENST00000382329.1:c.657G>C | ENSP00000371766.1:p.Gln219His | |
| ENST00000382331.5:c.162G>C | ENSP00000371768.1:p.Gln54His | |
| ENST00000432829.6:c.2256G>C | ENSP00000394888.3:p.Gln752His | |
| ENST00000453981.5:c.2052G>C | ENSP00000408464.2:p.Gln684His | |
| ENST00000469391.5:c.2052G>C | ENSP00000419438.1:p.Gln684His | |
| ENST00000483757.5:c.*1731G>C | ENSP00000417691.1:n.*1731G>C | |
| ENST00000495184.5:n.4211G>C | ||
| NM_001190458.1:c.2052G>C | NP_001177387.1:p.Gln684His | |
| NM_001193536.1:c.2052G>C | NP_001180465.1:p.Gln684His | |
| NM_203447.3:c.2256G>C , LRG_196t1:c.2256G>C | NP_982272.2:p.Gln752His | |
| XM_011518045.1:c.2052G>C | XP_011516347.1:p.Gln684His | |
| XM_011518046.1:c.2118G>C | XP_011516348.1:p.Gln706His | |
| XM_011518047.1:c.2052G>C | XP_011516349.1:p.Gln684His | |
| XM_011518048.1:c.2052G>C | XP_011516350.1:p.Gln684His | |
| XM_011518049.1:c.492G>C | XP_011516351.1:p.Gln164His | |
| XM_011518045.3:c.2052G>C | XP_011516347.1:p.Gln684His | |
| XM_011518046.2:c.2118G>C | XP_011516348.1:p.Gln706His | |
| XM_011518047.3:c.2052G>C | XP_011516349.1:p.Gln684His | |
| XM_011518048.2:c.2052G>C | XP_011516350.1:p.Gln684His | |
| XM_011518049.2:c.492G>C | XP_011516351.1:p.Gln164His | |
| XM_017015173.1:c.2052G>C | XP_016870662.1:p.Gln684His | |
| XM_017015174.1:c.2118G>C | XP_016870663.1:p.Gln706His | |
| NM_001190458.2:c.2052G>C | NP_001177387.1:p.Gln684His | |
| NM_001193536.2:c.2052G>C | NP_001180465.1:p.Gln684His | |
| NM_203447.4:c.2256G>C MANE Select | NP_982272.2:p.Gln752His |