Linked Data
ClinVar Variation Id:
2840
dbSNP Id:
rs120074144
gnomAD v2:
11-108012415-C-T
gnomAD v3:
11-108141688-C-T
gnomAD v4:
11-108141688-C-T
PubMed:
PMID:7907600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108141688C>T , CM000673.2:g.108141688C>T | GRCh38 |
| NC_000011.9:g.108012415C>T , CM000673.1:g.108012415C>T | GRCh37 |
| NC_000011.8:g.107517625C>T | NCBI36 |
| NG_009888.1:g.25158C>T | |
| NG_009888.2:g.29984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.814C>T MANE Select | ENSP00000265838.4:p.Gln272Ter | |
| ENST00000671707.1:n.909C>T | ||
| ENST00000672031.1:c.814C>T | ENSP00000500463.1:p.Gln272Ter | |
| ENST00000672284.1:c.544C>T | ENSP00000500444.1:p.Gln182Ter | |
| ENST00000672354.1:c.814C>T | ENSP00000500490.1:p.Gln272Ter | |
| ENST00000672367.1:c.451C>T | ENSP00000500209.1:p.Gln151Ter | |
| ENST00000672580.1:c.*69C>T | ENSP00000500366.1:n.*69C>T | |
| ENST00000672907.1:c.499C>T | ENSP00000500928.1:p.Gln167Ter | |
| ENST00000673000.1:n.902C>T | ||
| ENST00000673531.1:c.544C>T | ENSP00000500163.1:p.Gln182Ter | |
| ENST00000265838.8:c.814C>T | ENSP00000265838.4:p.Gln272Ter | |
| ENST00000531813.5:c.*287C>T | ENSP00000435965.1:n.*287C>T | |
| ENST00000532792.5:n.309C>T | ||
| ENST00000533610.1:n.275C>T | ||
| NM_000019.3:c.814C>T | NP_000010.1:p.Gln272Ter | |
| XM_006718834.2:c.544C>T | XP_006718897.1:p.Gln182Ter | |
| XM_006718835.2:c.544C>T | XP_006718898.1:p.Gln182Ter | |
| XM_006718835.3:c.544C>T | XP_006718898.1:p.Gln182Ter | |
| XM_017017681.1:c.544C>T | XP_016873170.1:p.Gln182Ter | |
| XM_017017682.2:c.436C>T | XP_016873171.1:p.Gln146Ter | |
| XM_017017683.2:c.436C>T | XP_016873172.1:p.Gln146Ter | |
| XM_024448511.1:c.544C>T | XP_024304279.1:p.Gln182Ter | |
| XM_024448512.1:c.544C>T | XP_024304280.1:p.Gln182Ter | |
| XM_024448513.1:c.544C>T | XP_024304281.1:p.Gln182Ter | |
| XM_024448514.1:c.544C>T | XP_024304282.1:p.Gln182Ter | |
| XM_024448515.1:c.544C>T | XP_024304283.1:p.Gln182Ter | |
| NM_000019.4:c.814C>T MANE Select | NP_000010.1:p.Gln272Ter | |
| NM_001386677.1:c.814C>T | NP_001373606.1:p.Gln272Ter | |
| NM_001386678.1:c.499C>T | NP_001373607.1:p.Gln167Ter | |
| NM_001386679.1:c.517C>T | NP_001373608.1:p.Gln173Ter | |
| NM_001386681.1:c.544C>T | NP_001373610.1:p.Gln182Ter | |
| NM_001386682.1:c.544C>T | NP_001373611.1:p.Gln182Ter | |
| NM_001386685.1:c.544C>T | NP_001373614.1:p.Gln182Ter | |
| NM_001386686.1:c.544C>T | NP_001373615.1:p.Gln182Ter | |
| NM_001386687.1:c.544C>T | NP_001373616.1:p.Gln182Ter | |
| NM_001386688.1:c.544C>T | NP_001373617.1:p.Gln182Ter | |
| NM_001386689.1:c.544C>T | NP_001373618.1:p.Gln182Ter | |
| NM_001386690.1:c.544C>T | NP_001373619.1:p.Gln182Ter | |
| NM_001386691.1:c.544C>T | NP_001373620.1:p.Gln182Ter | |
| NR_170162.1:n.854C>T | ||
| NR_170163.1:n.847C>T |