Linked Data
ClinVar Variation Id:
222954
ClinVar RCV Id:
RCV000208561
dbSNP Id:
rs869025570
PubMed:
PMID:24852293
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47084336A>C , CM000665.2:g.47084336A>C | GRCh38 |
| NC_000003.11:g.47125826A>C , CM000665.1:g.47125826A>C | GRCh37 |
| NC_000003.10:g.47100830A>C | NCBI36 |
| NG_032091.1:g.84642T>G , LRG_775:g.84642T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.5312T>G | ENSP00000491413.2:p.Leu1771Trp | |
| ENST00000685005.1:c.5210T>G | ENSP00000509568.1:p.Leu1737Trp | |
| ENST00000685237.1:n.2153T>G | ||
| ENST00000685399.1:c.3324T>G | ||
| ENST00000685505.1:c.3385T>G | ||
| ENST00000686773.1:c.3324T>G | ||
| ENST00000686876.1:c.2160T>G | ||
| ENST00000688290.1:c.3324T>G | ||
| ENST00000690157.1:c.2413+1859T>G | ||
| ENST00000690461.1:c.3608T>G | ENSP00000509352.1:p.Leu1203Trp | |
| ENST00000691544.1:c.500T>G | ENSP00000510710.1:p.Leu167Trp | |
| ENST00000691902.1:c.1856-17218T>G | ||
| ENST00000692362.1:n.1249T>G | ||
| ENST00000692883.1:c.3385T>G | ||
| ENST00000693321.1:c.3324T>G | ||
| ENST00000693738.1:n.551T>G | ||
| ENST00000409792.4:c.5444T>G MANE Select | ENSP00000386759.3:p.Leu1815Trp | |
| ENST00000638947.1:c.1094T>G | ENSP00000491413.1:p.Leu365Trp | |
| ENST00000330022.11:c.5264T>G | ||
| ENST00000409792.3:c.5444T>G | ENSP00000386759.3:p.Leu1815Trp | |
| ENST00000431180.5:c.4472T>G | ||
| ENST00000445387.5:c.4344T>G | ||
| NM_014159.6:c.5444T>G , LRG_775t1:c.5444T>G | NP_054878.5:p.Leu1815Trp | |
| XM_011533631.1:c.5522T>G | XP_011531933.1:p.Leu1841Trp | |
| XM_011533632.1:c.5468T>G | XP_011531934.1:p.Leu1823Trp | |
| XM_011533633.1:c.5387T>G | XP_011531935.1:p.Leu1796Trp | |
| XM_011533634.1:c.5312T>G | XP_011531936.1:p.Leu1771Trp | |
| XR_940418.1:n.5537T>G | ||
| XR_940419.1:n.5625T>G | ||
| XR_940420.1:n.5625T>G | ||
| NM_001349370.1:c.5312T>G | NP_001336299.1:p.Leu1771Trp | |
| NR_146158.1:n.5497T>G | ||
| XM_011533632.3:c.5468T>G | XP_011531934.1:p.Leu1823Trp | |
| XM_024453487.1:c.5177T>G | XP_024309255.1:p.Leu1726Trp | |
| XM_024453488.1:c.5012T>G | XP_024309256.1:p.Leu1671Trp | |
| XR_001740131.2:n.5197T>G | ||
| XR_002959510.1:n.5373T>G | ||
| XR_002959511.1:n.5373T>G | ||
| XR_002959512.1:n.5373T>G | ||
| XR_002959513.1:n.5373T>G | ||
| XR_002959514.1:n.5373T>G | ||
| XR_002959515.1:n.5238T>G | ||
| XR_002959516.1:n.5275T>G | ||
| XR_002959517.1:n.5275T>G | ||
| NM_001349370.2:c.5312T>G | NP_001336299.1:p.Leu1771Trp | |
| NR_146158.2:n.5633T>G | ||
| NM_001349370.3:c.5312T>G | NP_001336299.1:p.Leu1771Trp | |
| NM_014159.7:c.5444T>G MANE Select | NP_054878.5:p.Leu1815Trp | |
| NR_146158.3:n.5633T>G |