Linked Data
ClinVar Variation Id:
68738
dbSNP Id:
rs121908200
ExAC:
11:6636673 C / G
gnomAD v2:
11-6636673-C-G
gnomAD v3:
11-6615442-C-G
gnomAD v4:
11-6615442-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615442C>G , CM000673.2:g.6615442C>G | GRCh38 |
| NC_000011.9:g.6636673C>G , CM000673.1:g.6636673C>G | GRCh37 |
| NC_000011.8:g.6593249C>G | NCBI36 |
| NG_008653.1:g.9020G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1152G>C | ENSP00000507321.1:p.Gln384His | |
| ENST00000299427.12:c.1266G>C MANE Select | ENSP00000299427.6:p.Gln422His | |
| ENST00000436873.7:c.503G>C | ||
| ENST00000524611.2:n.14G>C | ||
| ENST00000524924.2:n.386G>C | ||
| ENST00000533371.6:c.537G>C | ENSP00000437066.1:p.Gln179His | |
| ENST00000642892.1:c.537G>C | ENSP00000494165.1:p.Gln179His | |
| ENST00000643342.1:c.339G>C | ||
| ENST00000643439.1:c.*1006G>C | ENSP00000495849.1:n.*1006G>C | |
| ENST00000643479.1:n.1452G>C | ||
| ENST00000643516.1:c.775G>C | ||
| ENST00000644218.1:c.1077G>C | ENSP00000493574.1:p.Gln359His | |
| ENST00000644683.1:c.*719G>C | ENSP00000494085.1:n.*719G>C | |
| ENST00000644810.1:c.987G>C | ENSP00000495895.1:p.Gln329His | |
| ENST00000644831.1:n.1442G>C | ||
| ENST00000644933.1:c.*132G>C | ENSP00000496133.1:n.*132G>C | |
| ENST00000645285.1:c.*132G>C | ENSP00000495058.1:n.*132G>C | |
| ENST00000645331.1:n.2471G>C | ||
| ENST00000645620.1:c.537G>C | ENSP00000493657.1:p.Gln179His | |
| ENST00000646691.1:n.1041G>C | ||
| ENST00000646777.1:n.1599G>C | ||
| ENST00000647016.1:n.1746G>C | ||
| ENST00000647152.1:c.537G>C | ENSP00000495893.1:p.Gln179His | |
| ENST00000647209.1:c.*1135G>C | ENSP00000495558.1:n.*1135G>C | |
| ENST00000647346.1:n.2286G>C | ||
| ENST00000299427.10:c.1266G>C | ENSP00000299427.6:p.Gln422His | |
| ENST00000524611.1:n.32G>C | ||
| ENST00000524924.1:n.221G>C | ||
| ENST00000532191.1:n.319G>C | ||
| ENST00000533371.5:c.537G>C | ENSP00000437066.1:p.Gln179His | |
| ENST00000611494.4:c.1266G>C | ENSP00000484546.1:p.Gln422His | |
| NM_000391.3:c.1266G>C | NP_000382.3:p.Gln422His | |
| NM_000391.4:c.1266G>C MANE Select | NP_000382.3:p.Gln422His |