Linked Data
ClinVar Variation Id:
1347764
ClinVar RCV Id:
RCV002050674
dbSNP Id:
rs770006796
ExAC:
11:2187719 C / G
gnomAD v2:
11-2187719-C-G
gnomAD v3:
11-2166489-C-G
gnomAD v4:
11-2166489-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166489C>G , CM000673.2:g.2166489C>G | GRCh38 |
| NC_000011.9:g.2187719C>G , CM000673.1:g.2187719C>G | GRCh37 |
| NC_000011.8:g.2144295C>G | NCBI36 |
| NG_008128.1:g.10317G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1038G>C MANE Select | ENSP00000325951.4:p.Gln346His | |
| ENST00000324155.8:c.*727G>C | ENSP00000325831.3:n.*727G>C | |
| ENST00000333684.9:c.756G>C | ENSP00000328814.6:p.Gln252His | |
| ENST00000352909.7:c.1038G>C | ENSP00000325951.3:p.Gln346His | |
| ENST00000381168.7:c.*758G>C | ENSP00000370560.3:n.*758G>C | |
| ENST00000381175.5:c.1119G>C | ENSP00000370567.1:p.Gln373His | |
| ENST00000381178.5:c.1131G>C | ENSP00000370571.1:p.Gln377His | |
| ENST00000412076.1:c.196G>C | ||
| ENST00000416223.5:c.332G>C | ||
| ENST00000461172.1:n.203G>C | ||
| ENST00000479437.5:n.587G>C | ||
| NM_000360.3:c.1038G>C | NP_000351.2:p.Gln346His | |
| NM_199292.2:c.1131G>C | NP_954986.2:p.Gln377His | |
| NM_199293.2:c.1119G>C | NP_954987.2:p.Gln373His | |
| XM_011520335.1:c.1050G>C | XP_011518637.1:p.Gln350His | |
| XM_011520335.2:c.1050G>C | XP_011518637.1:p.Gln350His | |
| NM_000360.4:c.1038G>C MANE Select | NP_000351.2:p.Gln346His | |
| NM_199292.3:c.1131G>C | NP_954986.2:p.Gln377His | |
| NM_199293.3:c.1119G>C | NP_954987.2:p.Gln373His |