Linked Data
ClinVar Variation Id:
1572949
ClinVar RCV Id:
RCV002215676
dbSNP Id:
rs1391867168
gnomAD v2:
18-46690124-T-C
gnomAD v4:
18-49163754-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49163754T>C , CM000680.2:g.49163754T>C | GRCh38 |
| NC_000018.9:g.46690124T>C , CM000680.1:g.46690124T>C | GRCh37 |
| NC_000018.8:g.44944122T>C | NCBI36 |
| NG_009239.1:g.301956A>G | |
| NG_009239.2:g.301980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675505.1:c.1659A>G MANE Select | ENSP00000501694.1:p.Lys553= | |
| ENST00000269445.10:c.1494A>G | ENSP00000269445.6:p.Lys498= | |
| ENST00000442713.6:c.924A>G | ENSP00000395942.2:p.Lys308= | |
| ENST00000582399.1:c.323A>G | ||
| NM_017653.3:c.1494A>G | NP_060123.3:p.Lys498= | |
| XM_006722488.2:c.1494A>G | XP_006722551.1:p.Lys498= | |
| XM_006722490.2:c.1494A>G | XP_006722553.1:p.Lys498= | |
| XM_011526036.1:c.1494A>G | XP_011524338.1:p.Lys498= | |
| XM_011526037.1:c.1491A>G | XP_011524339.1:p.Lys497= | |
| XM_011526038.1:c.1491A>G | XP_011524340.1:p.Lys497= | |
| XM_011526039.1:c.1494A>G | XP_011524341.1:p.Lys498= | |
| XM_011526040.1:c.1326A>G | XP_011524342.1:p.Lys442= | |
| XM_011526041.1:c.1494A>G | XP_011524343.1:p.Lys498= | |
| XM_011526042.1:c.1494A>G | XP_011524344.1:p.Lys498= | |
| XM_011526043.1:c.1494A>G | XP_011524345.1:p.Lys498= | |
| NM_001353210.1:c.1491A>G | NP_001340139.1:p.Lys497= | |
| NM_001353211.1:c.1491A>G | NP_001340140.1:p.Lys497= | |
| NM_001353212.1:c.1656A>G | NP_001340141.1:p.Lys552= | |
| NM_001353213.1:c.1656A>G | NP_001340142.1:p.Lys552= | |
| NM_001353214.1:c.1659A>G | NP_001340143.1:p.Lys553= | |
| NM_001353215.1:c.1659A>G | NP_001340144.1:p.Lys553= | |
| NM_001353216.1:c.1494A>G | NP_001340145.1:p.Lys498= | |
| NM_017653.4:c.1494A>G | NP_060123.3:p.Lys498= | |
| XM_006722488.3:c.1494A>G | XP_006722551.1:p.Lys498= | |
| XM_011526036.2:c.1494A>G | XP_011524338.1:p.Lys498= | |
| XM_011526038.2:c.1491A>G | XP_011524340.1:p.Lys497= | |
| XM_011526039.2:c.1494A>G | XP_011524341.1:p.Lys498= | |
| XM_011526041.2:c.1494A>G | XP_011524343.1:p.Lys498= | |
| XM_011526042.2:c.1494A>G | XP_011524344.1:p.Lys498= | |
| XM_017025795.1:c.1488A>G | XP_016881284.1:p.Lys496= | |
| XM_017025796.2:c.1314A>G | XP_016881285.1:p.Lys438= | |
| XM_017025800.2:c.1491A>G | XP_016881289.1:p.Lys497= | |
| XM_017025801.1:c.1488A>G | XP_016881290.1:p.Lys496= | |
| XR_002958177.1:n.1851A>G | ||
| NM_001353210.3:c.1491A>G | NP_001340139.1:p.Lys497= | |
| NM_001353211.3:c.1491A>G | NP_001340140.1:p.Lys497= | |
| NM_001353212.3:c.1656A>G | NP_001340141.1:p.Lys552= | |
| NM_001353213.3:c.1656A>G | NP_001340142.1:p.Lys552= | |
| NM_001353214.3:c.1659A>G MANE Select | NP_001340143.1:p.Lys553= | |
| NM_001353215.3:c.1659A>G | NP_001340144.1:p.Lys553= | |
| NM_001353216.3:c.1494A>G | NP_001340145.1:p.Lys498= | |
| NM_001374428.1:c.1659A>G | NP_001361357.1:p.Lys553= | |
| NM_001374429.1:c.1653A>G | NP_001361358.1:p.Lys551= | |
| NM_001374430.1:c.1659A>G | NP_001361359.1:p.Lys553= | |
| NM_001374431.1:c.1659A>G | NP_001361360.1:p.Lys553= | |
| NM_001374432.1:c.1533A>G | NP_001361361.1:p.Lys511= | |
| NM_001374433.1:c.1494A>G | NP_001361362.1:p.Lys498= | |
| NM_001374434.1:c.1494A>G | NP_001361363.1:p.Lys498= | |
| NM_001374435.1:c.1491A>G | NP_001361364.1:p.Lys497= | |
| NM_001374436.1:c.1368A>G | NP_001361365.1:p.Lys456= | |
| NM_001374437.1:c.1311A>G | NP_001361366.1:p.Lys437= | |
| NM_001374438.1:c.1491A>G | NP_001361367.1:p.Lys497= | |
| NM_001374439.1:c.1488A>G | NP_001361368.1:p.Lys496= | |
| NM_001374440.1:c.1266A>G | NP_001361369.1:p.Lys422= | |
| NM_001374441.1:c.1089A>G | NP_001361370.1:p.Lys363= | |
| NM_001374442.1:c.924A>G | NP_001361371.1:p.Lys308= | |
| NM_001374443.1:c.921A>G | NP_001361372.1:p.Lys307= | |
| NM_001374444.1:c.924A>G | NP_001361373.1:p.Lys308= | |
| NM_017653.6:c.1494A>G | NP_060123.3:p.Lys498= |