Linked Data
ClinVar Variation Id:
224577
ClinVar RCV Id:
RCV000210095
RCV000219087
RCV000520524
RCV000530644
RCV000662912
RCV003330582
RCV004541299
dbSNP Id:
rs747504492
ExAC:
2:47702200 T / C
gnomAD v2:
2-47702200-T-C
gnomAD v3:
2-47475061-T-C
gnomAD v4:
2-47475061-T-C
PubMed:
PMID:26845104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47475061T>C , CM000664.2:g.47475061T>C | GRCh38 |
| NC_000002.11:g.47702200T>C , CM000664.1:g.47702200T>C | GRCh37 |
| NC_000002.10:g.47555704T>C | NCBI36 |
| NG_007110.2:g.76938T>C , LRG_218:g.76938T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1796T>C | ENSP00000495641.2:p.Leu599Ser | |
| ENST00000233146.7:c.1796T>C MANE Select | ENSP00000233146.2:p.Leu599Ser | |
| ENST00000543555.6:c.1598T>C | ENSP00000442697.1:p.Leu533Ser | |
| ENST00000644092.1:c.*96T>C | ENSP00000496351.1:n.*96T>C | |
| ENST00000645339.1:c.1796T>C | ENSP00000496441.1:p.Leu599Ser | |
| ENST00000645506.1:c.1796T>C | ENSP00000495455.1:p.Leu599Ser | |
| ENST00000646415.1:c.1796T>C | ENSP00000495543.1:p.Leu599Ser | |
| ENST00000233146.6:c.1796T>C | ENSP00000233146.2:p.Leu599Ser | |
| ENST00000406134.5:c.1796T>C | ENSP00000384199.1:p.Leu599Ser | |
| ENST00000543555.5:c.1598T>C | ENSP00000442697.1:p.Leu533Ser | |
| ENST00000610696.4:c.*192T>C | ENSP00000483159.1:n.*192T>C | |
| ENST00000613514.4:c.*336T>C | ENSP00000484137.1:n.*336T>C | |
| ENST00000617333.3:c.*562T>C | ENSP00000482468.1:n.*562T>C | |
| ENST00000617938.4:c.*768T>C | ENSP00000481158.1:n.*768T>C | |
| ENST00000621359.2:c.1796T>C | ENSP00000481416.1:p.Leu599Ser | |
| NM_000251.2:c.1796T>C , LRG_218t1:c.1796T>C | NP_000242.1:p.Leu599Ser | |
| NM_001258281.1:c.1598T>C | NP_001245210.1:p.Leu533Ser | |
| XM_005264332.2:c.1796T>C | XP_005264389.2:p.Leu599Ser | |
| XM_011532867.1:c.1796T>C | XP_011531169.1:p.Leu599Ser | |
| XR_939685.1:n.1868T>C | ||
| XM_005264332.4:c.1796T>C | XP_005264389.2:p.Leu599Ser | |
| XM_011532867.2:c.1796T>C | XP_011531169.1:p.Leu599Ser | |
| XR_001738747.2:n.1858T>C | ||
| XR_939685.2:n.1858T>C | ||
| NM_000251.3:c.1796T>C MANE Select | NP_000242.1:p.Leu599Ser |