MyVariant.info:
GRCh37
chr18:g.43481050C>G
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45901085C>G , CM000680.2:g.45901085C>G | GRCh38 |
| NC_000018.9:g.43481050C>G , CM000680.1:g.43481050C>G | GRCh37 |
| NC_000018.8:g.41735048C>G | NCBI36 |
| NG_042838.1:g.71255G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.2874G>C | ||
| ENST00000587884.2:c.4683G>C | ENSP00000466990.2:n.4683G>C | |
| ENST00000590884.6:c.4557G>C | ENSP00000466403.2:p.Val1519= | |
| ENST00000592272.6:c.4557G>C | ENSP00000467464.2:p.Val1519= | |
| ENST00000696482.1:c.4297G>C | ENSP00000512656.1:n.4297G>C | |
| ENST00000696483.1:c.4557G>C | ENSP00000512657.1:p.Val1519= | |
| ENST00000696484.1:c.4557G>C | ENSP00000512658.1:p.Val1519= | |
| ENST00000696485.1:c.4557G>C | ENSP00000512659.1:p.Val1519= | |
| ENST00000696489.1:c.4557G>C | ENSP00000512660.1:p.Val1519= | |
| ENST00000696490.1:c.4557G>C | ENSP00000512661.1:p.Val1519= | |
| ENST00000696785.1:n.1628G>C | ||
| ENST00000282041.11:c.4557G>C MANE Select | ENSP00000282041.4:p.Val1519= | |
| ENST00000282041.9:c.4557G>C | ENSP00000282041.4:p.Val1519= | |
| ENST00000585906.5:n.1336G>C | ||
| ENST00000587884.1:c.*297G>C | ENSP00000466990.1:n.*297G>C | |
| ENST00000590884.5:c.1182G>C | ENSP00000466403.1:p.Val394= | |
| ENST00000592272.5:c.1182G>C | ENSP00000467464.1:p.Val394= | |
| NM_020964.2:c.4557G>C | NP_066015.2:p.Val1519= | |
| XM_011526120.1:c.4584G>C | XP_011524422.1:p.Val1528= | |
| XM_011526121.1:c.4584G>C | XP_011524423.1:p.Val1528= | |
| XM_011526122.1:c.4557G>C | XP_011524424.1:p.Val1519= | |
| XM_011526123.1:c.4584G>C | XP_011524425.1:p.Val1528= | |
| XM_011526124.1:c.4584G>C | XP_011524426.1:p.Val1528= | |
| XM_011526125.1:c.4443G>C | XP_011524427.1:p.Val1481= | |
| XM_011526126.1:c.3519G>C | XP_011524428.1:p.Val1173= | |
| XM_011526127.1:c.4584G>C | XP_011524429.1:p.Val1528= | |
| XM_011526128.1:c.4584G>C | XP_011524430.1:p.Val1528= | |
| XR_935244.1:n.4657G>C | ||
| NM_020964.3:c.4557G>C MANE Select | NP_066015.2:p.Val1519= | |
| XM_017025889.1:c.4557G>C | XP_016881378.1:p.Val1519= | |
| XM_017025890.2:c.4557G>C | XP_016881379.1:p.Val1519= | |
| XM_017025891.1:c.4416G>C | XP_016881380.1:p.Val1472= | |
| XM_017025892.1:c.3492G>C | XP_016881381.1:p.Val1164= | |
| XM_017025893.1:c.1182G>C | XP_016881382.1:p.Val394= | |
| XR_001753256.1:n.4639G>C | ||
| XR_001753257.1:n.4639G>C |