Linked Data
ClinVar Variation Id:
222955
ClinVar RCV Id:
RCV000208536
dbSNP Id:
rs869025571
PubMed:
PMID:24852293
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47123816G>A , CM000665.2:g.47123816G>A | GRCh38 |
| NC_000003.11:g.47165306G>A , CM000665.1:g.47165306G>A | GRCh37 |
| NC_000003.10:g.47140310G>A | NCBI36 |
| NG_032091.1:g.45162C>T , LRG_775:g.45162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.688C>T | ENSP00000491413.2:p.Gln230Ter | |
| ENST00000685005.1:c.721C>T | ENSP00000509568.1:p.Gln241Ter | |
| ENST00000691544.1:c.72-25735C>T | ENSP00000510710.1:n.72-25735C>T | |
| ENST00000409792.4:c.820C>T MANE Select | ENSP00000386759.3:p.Gln274Ter | |
| ENST00000330022.11:c.435C>T | ||
| ENST00000409792.3:c.820C>T | ENSP00000386759.3:p.Gln274Ter | |
| ENST00000412450.1:c.688C>T | ENSP00000416401.1:p.Gln230Ter | |
| NM_014159.6:c.820C>T , LRG_775t1:c.820C>T | NP_054878.5:p.Gln274Ter | |
| XM_011533631.1:c.898C>T | XP_011531933.1:p.Gln300Ter | |
| XM_011533632.1:c.844C>T | XP_011531934.1:p.Gln282Ter | |
| XM_011533633.1:c.898C>T | XP_011531935.1:p.Gln300Ter | |
| XM_011533634.1:c.688C>T | XP_011531936.1:p.Gln230Ter | |
| XR_940418.1:n.913C>T | ||
| XR_940419.1:n.1001C>T | ||
| XR_940420.1:n.1001C>T | ||
| NM_001349370.1:c.688C>T | NP_001336299.1:p.Gln230Ter | |
| NR_146158.1:n.873C>T | ||
| XM_011533632.3:c.844C>T | XP_011531934.1:p.Gln282Ter | |
| XM_024453487.1:c.688C>T | XP_024309255.1:p.Gln230Ter | |
| XM_024453488.1:c.688C>T | XP_024309256.1:p.Gln230Ter | |
| XM_024453489.1:c.688C>T | XP_024309257.1:p.Gln230Ter | |
| XR_001740131.2:n.873C>T | ||
| XR_002959510.1:n.749C>T | ||
| XR_002959511.1:n.749C>T | ||
| XR_002959512.1:n.749C>T | ||
| XR_002959513.1:n.749C>T | ||
| XR_002959514.1:n.749C>T | ||
| XR_002959515.1:n.749C>T | ||
| XR_002959516.1:n.749C>T | ||
| XR_002959517.1:n.749C>T | ||
| NM_001349370.2:c.688C>T | NP_001336299.1:p.Gln230Ter | |
| NR_146158.2:n.1009C>T | ||
| NM_001349370.3:c.688C>T | NP_001336299.1:p.Gln230Ter | |
| NM_014159.7:c.820C>T MANE Select | NP_054878.5:p.Gln274Ter | |
| NR_146158.3:n.1009C>T |