Linked Data
ClinVar Variation Id:
90965
ClinVar RCV Id:
RCV000160651
RCV000212619
RCV000410686
RCV000724817
RCV001083867
RCV001354589
RCV004537295
dbSNP Id:
rs201298777
ExAC:
2:47705600 A / G
gnomAD v2:
2-47705600-A-G
gnomAD v3:
2-47478461-A-G
gnomAD v4:
2-47478461-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47478461A>G , CM000664.2:g.47478461A>G | GRCh38 |
| NC_000002.11:g.47705600A>G , CM000664.1:g.47705600A>G | GRCh37 |
| NC_000002.10:g.47559104A>G | NCBI36 |
| NG_007110.2:g.80338A>G , LRG_218:g.80338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2400A>G | ENSP00000495641.2:p.Leu800= | |
| ENST00000233146.7:c.2400A>G MANE Select | ENSP00000233146.2:p.Leu800= | |
| ENST00000543555.6:c.2202A>G | ENSP00000442697.1:p.Leu734= | |
| ENST00000644092.1:c.*700A>G | ENSP00000496351.1:n.*700A>G | |
| ENST00000644900.1:c.253A>G | ||
| ENST00000645339.1:c.2400A>G | ENSP00000496441.1:p.Leu800= | |
| ENST00000645506.1:c.2400A>G | ENSP00000495455.1:p.Leu800= | |
| ENST00000646415.1:c.2400A>G | ENSP00000495543.1:p.Leu800= | |
| ENST00000233146.6:c.2400A>G | ENSP00000233146.2:p.Leu800= | |
| ENST00000406134.5:c.2400A>G | ENSP00000384199.1:p.Leu800= | |
| ENST00000543555.5:c.2202A>G | ENSP00000442697.1:p.Leu734= | |
| ENST00000610696.4:c.*796A>G | ENSP00000483159.1:n.*796A>G | |
| ENST00000613514.4:c.*940A>G | ENSP00000484137.1:n.*940A>G | |
| ENST00000617333.3:c.*1166A>G | ENSP00000482468.1:n.*1166A>G | |
| ENST00000617938.4:c.*1372A>G | ENSP00000481158.1:n.*1372A>G | |
| ENST00000621359.2:c.2399A>G | ENSP00000481416.1:p.Tyr800Cys | |
| NM_000251.2:c.2400A>G , LRG_218t1:c.2400A>G | NP_000242.1:p.Leu800= | |
| NM_001258281.1:c.2202A>G | NP_001245210.1:p.Leu734= | |
| XM_005264332.2:c.2400A>G | XP_005264389.2:p.Leu800= | |
| XM_011532867.1:c.2400A>G | XP_011531169.1:p.Leu800= | |
| XR_939685.1:n.2472A>G | ||
| XM_005264332.4:c.2400A>G | XP_005264389.2:p.Leu800= | |
| XM_011532867.2:c.2400A>G | XP_011531169.1:p.Leu800= | |
| XR_001738747.2:n.2462A>G | ||
| XR_939685.2:n.2462A>G | ||
| NM_000251.3:c.2400A>G MANE Select | NP_000242.1:p.Leu800= |