Linked Data
ClinVar Variation Id:
2912535
ClinVar RCV Id:
RCV003627456
dbSNP Id:
rs1303643362
gnomAD v2:
19-10469860-G-A
gnomAD v4:
19-10359184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10359184G>A , CM000681.2:g.10359184G>A | GRCh38 |
| NC_000019.9:g.10469860G>A , CM000681.1:g.10469860G>A | GRCh37 |
| NC_000019.8:g.10330860G>A | NCBI36 |
| NG_007872.1:g.26389C>T , LRG_121:g.26389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*515C>T | ENSP00000514307.1:n.*515C>T | |
| ENST00000525976.6:c.2166C>T | ENSP00000434831.2:p.Leu722= | |
| ENST00000527481.3:c.2166C>T | ENSP00000466340.2:p.Leu722= | |
| ENST00000529370.6:n.2497C>T | ||
| ENST00000529739.2:n.2580C>T | ||
| ENST00000530829.2:c.*1717C>T | ENSP00000436826.2:n.*1717C>T | |
| ENST00000531836.6:c.2166C>T | ENSP00000436175.2:p.Leu722= | |
| ENST00000533334.2:c.*208C>T | ENSP00000432320.2:n.*208C>T | |
| ENST00000534228.2:n.2580C>T | ||
| ENST00000699355.1:c.*226C>T | ENSP00000514328.1:n.*226C>T | |
| ENST00000699356.1:n.2580C>T | ||
| ENST00000699357.1:n.2580C>T | ||
| ENST00000699358.1:c.2166C>T | ENSP00000514329.1:p.Leu722= | |
| ENST00000699360.1:c.2166C>T | ENSP00000514331.1:p.Leu722= | |
| ENST00000525621.6:c.2166C>T MANE Select | ENSP00000431885.1:p.Leu722= | |
| ENST00000264818.10:c.2166C>T | ENSP00000264818.6:p.Leu722= | |
| ENST00000524462.5:c.1611C>T | ENSP00000433203.1:p.Leu537= | |
| ENST00000525621.5:c.2166C>T | ENSP00000431885.1:p.Leu722= | |
| ENST00000529370.5:c.2166C>T | ENSP00000432728.1:p.Leu722= | |
| ENST00000533334.1:c.455C>T | ||
| NM_003331.4:c.2166C>T , LRG_121t1:c.2166C>T | NP_003322.3:p.Leu722= | |
| XM_011528245.1:c.2166C>T | XP_011526547.1:p.Leu722= | |
| XM_011528246.1:c.1869C>T | XP_011526548.1:p.Leu623= | |
| XM_011528247.1:c.1869C>T | XP_011526549.1:p.Leu623= | |
| XM_011528248.1:c.2166C>T | XP_011526550.1:p.Leu722= | |
| XM_011528249.1:c.840C>T | XP_011526551.1:p.Leu280= | |
| XM_011528251.1:c.423C>T | XP_011526553.1:p.Leu141= | |
| XM_011528246.3:c.1869C>T | XP_011526548.1:p.Leu623= | |
| XM_011528249.2:c.840C>T | XP_011526551.1:p.Leu280= | |
| XR_001753750.1:n.2323C>T | ||
| XR_001753751.1:n.2323C>T | ||
| XR_001753752.1:n.2435C>T | ||
| XR_002958353.1:n.2204C>T | ||
| NM_003331.5:c.2166C>T MANE Select | NP_003322.3:p.Leu722= | |
| NM_001385197.1:c.2166C>T | NP_001372126.1:p.Leu722= | |
| NM_001385198.1:c.2166C>T | NP_001372127.1:p.Leu722= | |
| NM_001385199.1:c.1980C>T | NP_001372128.1:p.Leu660= | |
| NM_001385200.1:c.2166C>T | NP_001372129.1:p.Leu722= | |
| NM_001385201.1:c.1968C>T | NP_001372130.1:p.Leu656= | |
| NM_001385202.1:c.2082C>T | NP_001372131.1:p.Leu694= | |
| NM_001385203.1:c.2166C>T | NP_001372132.1:p.Leu722= | |
| NM_001385204.1:c.2166C>T | NP_001372133.1:p.Leu722= | |
| NM_001385205.1:c.2076C>T | NP_001372134.1:p.Leu692= | |
| NM_001385206.1:c.2040C>T | NP_001372135.1:p.Leu680= | |
| NM_001385207.1:c.2148C>T | NP_001372136.1:p.Leu716= |