Linked Data
ClinVar Variation Id:
532868
ClinVar RCV Id:
RCV000639789
RCV000764393
RCV001143357
RCV001334235
RCV001811132
RCV002334103
RCV003338706
dbSNP Id:
rs377032453
ExAC:
2:241659303 C / T
gnomAD v2:
2-241659303-C-T
gnomAD v3:
2-240719886-C-T
gnomAD v4:
2-240719886-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240719886C>T , CM000664.2:g.240719886C>T | GRCh38 |
| NC_000002.11:g.241659303C>T , CM000664.1:g.241659303C>T | GRCh37 |
| NC_000002.10:g.241307976C>T | NCBI36 |
| NG_029724.1:g.105322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.4630G>A | ENSP00000322791.8:p.Glu1544Lys | |
| ENST00000404283.9:c.4933G>A | ENSP00000384231.5:p.Glu1645Lys | |
| ENST00000431776.6:c.1729G>A | ENSP00000414613.2:p.Glu577Lys | |
| ENST00000492812.6:n.3492G>A | ||
| ENST00000498729.9:c.4909G>A MANE Select | ENSP00000438388.1:p.Glu1637Lys | |
| ENST00000647731.1:c.4633G>A | ENSP00000498099.1:p.Glu1545Lys | |
| ENST00000647885.1:c.4720G>A | ENSP00000497739.1:p.Glu1574Lys | |
| ENST00000648047.1:c.3868G>A | ENSP00000497935.1:p.Glu1290Lys | |
| ENST00000648129.1:c.4882G>A | ENSP00000497293.1:p.Glu1628Lys | |
| ENST00000648364.1:c.4633G>A | ENSP00000498196.1:p.Glu1545Lys | |
| ENST00000648680.1:c.4660G>A | ENSP00000497586.1:p.Glu1554Lys | |
| ENST00000649096.1:c.4606G>A | ENSP00000497030.1:p.Glu1536Lys | |
| ENST00000649190.1:n.3903G>A | ||
| ENST00000649306.1:c.4708G>A | ENSP00000497678.1:p.Glu1570Lys | |
| ENST00000650053.1:c.4606G>A | ENSP00000497824.1:p.Glu1536Lys | |
| ENST00000650130.1:c.4882G>A | ENSP00000498082.1:p.Glu1628Lys | |
| ENST00000650430.1:n.3981G>A | ||
| ENST00000675644.1:c.331G>A | ENSP00000502435.1:n.331G>A | |
| ENST00000675932.1:c.186G>A | ENSP00000502786.1:p.Pro62= | |
| ENST00000320389.11:c.4606G>A | ENSP00000322791.7:p.Glu1536Lys | |
| ENST00000460788.5:n.1466G>A | ||
| ENST00000488776.1:n.400G>A | ||
| ENST00000492812.5:n.1381G>A | ||
| ENST00000498729.6:c.4909G>A | ENSP00000438388.1:p.Glu1637Lys | |
| NM_001244008.1:c.4909G>A | NP_001230937.1:p.Glu1637Lys | |
| NM_004321.6:c.4606G>A | NP_004312.2:p.Glu1536Lys | |
| XM_005247022.1:c.4936G>A | XP_005247079.1:p.Glu1646Lys | |
| XM_005247023.1:c.4933G>A | XP_005247080.1:p.Glu1645Lys | |
| XM_005247024.1:c.4909G>A | XP_005247081.1:p.Glu1637Lys | |
| XM_005247026.1:c.4633G>A | XP_005247083.1:p.Glu1545Lys | |
| XM_005247027.1:c.4630G>A | XP_005247084.1:p.Glu1544Lys | |
| XM_005247028.1:c.4606G>A | XP_005247085.1:p.Glu1536Lys | |
| XM_006712605.1:c.4882G>A | XP_006712668.1:p.Glu1628Lys | |
| XM_011511364.1:c.4936G>A | XP_011509666.1:p.Glu1646Lys | |
| XM_011511365.1:c.4660G>A | XP_011509667.1:p.Glu1554Lys | |
| XM_011511366.1:c.3931G>A | XP_011509668.1:p.Glu1311Lys | |
| XM_011511367.1:c.3931G>A | XP_011509669.1:p.Glu1311Lys | |
| NM_001320705.1:c.4633G>A | NP_001307634.1:p.Glu1545Lys | |
| NM_001330289.1:c.4660G>A | NP_001317218.1:p.Glu1554Lys | |
| NM_001330290.1:c.4708G>A | NP_001317219.1:p.Glu1570Lys | |
| NM_004321.7:c.4606G>A | NP_004312.2:p.Glu1536Lys | |
| NM_001320705.2:c.4633G>A | NP_001307634.1:p.Glu1545Lys | |
| NM_001330289.2:c.4660G>A | NP_001317218.1:p.Glu1554Lys | |
| NM_001330290.2:c.4708G>A | NP_001317219.1:p.Glu1570Lys | |
| NM_001244008.2:c.4909G>A MANE Select | NP_001230937.1:p.Glu1637Lys | |
| NM_001379631.1:c.4984G>A | NP_001366560.1:p.Glu1662Lys | |
| NM_001379632.1:c.4885G>A | NP_001366561.1:p.Glu1629Lys | |
| NM_001379633.1:c.4882G>A | NP_001366562.1:p.Glu1628Lys | |
| NM_001379634.1:c.4735G>A | NP_001366563.1:p.Glu1579Lys | |
| NM_001379635.1:c.4732G>A | NP_001366564.1:p.Glu1578Lys | |
| NM_001379636.1:c.4720G>A | NP_001366565.1:p.Glu1574Lys | |
| NM_001379637.1:c.4681G>A | NP_001366566.1:p.Glu1561Lys | |
| NM_001379638.1:c.4657G>A | NP_001366567.1:p.Glu1553Lys | |
| NM_001379639.1:c.4630G>A | NP_001366568.1:p.Glu1544Lys | |
| NM_001379640.1:c.4603G>A | NP_001366569.1:p.Glu1535Lys | |
| NM_001379641.1:c.4606G>A | NP_001366570.1:p.Glu1536Lys | |
| NM_001379642.1:c.4909G>A | NP_001366571.1:p.Glu1637Lys | |
| NM_001379645.1:c.4882G>A | NP_001366574.1:p.Glu1628Lys | |
| NM_001379646.1:c.4732G>A | NP_001366575.1:p.Glu1578Lys | |
| NM_001379648.1:c.4708G>A | NP_001366577.1:p.Glu1570Lys | |
| NM_001379649.1:c.4633G>A | NP_001366578.1:p.Glu1545Lys | |
| NM_001379650.1:c.4606G>A | NP_001366579.1:p.Glu1536Lys | |
| NM_001379651.1:c.4606G>A | NP_001366580.1:p.Glu1536Lys | |
| NM_001379653.1:c.4606G>A | NP_001366582.1:p.Glu1536Lys | |
| NM_004321.8:c.4606G>A | NP_004312.2:p.Glu1536Lys |