Linked Data
ClinVar Variation Id:
371630
ClinVar RCV Id:
RCV000411945
dbSNP Id:
rs1057517423
gnomAD v2:
11-2189139-G-A
gnomAD v4:
11-2167909-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2167909G>A , CM000673.2:g.2167909G>A | GRCh38 |
| NC_000011.9:g.2189139G>A , CM000673.1:g.2189139G>A | GRCh37 |
| NC_000011.8:g.2145715G>A | NCBI36 |
| NG_008128.1:g.8897C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.601C>T MANE Select | ENSP00000325951.4:p.Gln201Ter | |
| ENST00000324155.8:c.*290C>T | ENSP00000325831.3:n.*290C>T | |
| ENST00000333684.9:c.601C>T | ENSP00000328814.6:p.Gln201Ter | |
| ENST00000352909.7:c.601C>T | ENSP00000325951.3:p.Gln201Ter | |
| ENST00000381168.7:c.*290C>T | ENSP00000370560.3:n.*290C>T | |
| ENST00000381175.5:c.682C>T | ENSP00000370567.1:p.Gln228Ter | |
| ENST00000381178.5:c.694C>T | ENSP00000370571.1:p.Gln232Ter | |
| ENST00000412076.1:c.41C>T | ||
| ENST00000416223.5:c.41C>T | ||
| ENST00000469226.1:n.350C>T | ||
| NM_000360.3:c.601C>T | NP_000351.2:p.Gln201Ter | |
| NM_199292.2:c.694C>T | NP_954986.2:p.Gln232Ter | |
| NM_199293.2:c.682C>T | NP_954987.2:p.Gln228Ter | |
| XM_011520335.1:c.613C>T | XP_011518637.1:p.Gln205Ter | |
| XM_011520335.2:c.613C>T | XP_011518637.1:p.Gln205Ter | |
| NM_000360.4:c.601C>T MANE Select | NP_000351.2:p.Gln201Ter | |
| NM_199292.3:c.694C>T | NP_954986.2:p.Gln232Ter | |
| NM_199293.3:c.682C>T | NP_954987.2:p.Gln228Ter |