Linked Data
ClinVar Variation Id:
572684
ClinVar RCV Id:
RCV000694125
dbSNP Id:
rs762353654
ExAC:
18:43510647 A / G
gnomAD v2:
18-43510647-A-G
gnomAD v3:
18-45930681-A-G
gnomAD v4:
18-45930681-A-G
COSMIC:
COSM1303743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45930681A>G , CM000680.2:g.45930681A>G | GRCh38 |
| NC_000018.9:g.43510647A>G , CM000680.1:g.43510647A>G | GRCh37 |
| NC_000018.8:g.41764645A>G | NCBI36 |
| NG_042838.1:g.41659T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587884.2:c.2407T>C | ENSP00000466990.2:p.Tyr803His | |
| ENST00000590884.6:c.2407T>C | ENSP00000466403.2:p.Tyr803His | |
| ENST00000592272.6:c.2407T>C | ENSP00000467464.2:p.Tyr803His | |
| ENST00000696480.1:n.1348T>C | ||
| ENST00000696482.1:c.2407T>C | ENSP00000512656.1:p.Tyr803His | |
| ENST00000696483.1:c.2407T>C | ENSP00000512657.1:p.Tyr803His | |
| ENST00000696484.1:c.2407T>C | ENSP00000512658.1:p.Tyr803His | |
| ENST00000696485.1:c.2407T>C | ENSP00000512659.1:p.Tyr803His | |
| ENST00000696489.1:c.2407T>C | ENSP00000512660.1:p.Tyr803His | |
| ENST00000696490.1:c.2407T>C | ENSP00000512661.1:p.Tyr803His | |
| ENST00000282041.11:c.2407T>C MANE Select | ENSP00000282041.4:p.Tyr803His | |
| ENST00000282041.9:c.2407T>C | ENSP00000282041.4:p.Tyr803His | |
| ENST00000587974.1:n.2442T>C | ||
| NM_020964.2:c.2407T>C | NP_066015.2:p.Tyr803His | |
| XM_011526120.1:c.2407T>C | XP_011524422.1:p.Tyr803His | |
| XM_011526121.1:c.2407T>C | XP_011524423.1:p.Tyr803His | |
| XM_011526122.1:c.2407T>C | XP_011524424.1:p.Tyr803His | |
| XM_011526123.1:c.2407T>C | XP_011524425.1:p.Tyr803His | |
| XM_011526124.1:c.2407T>C | XP_011524426.1:p.Tyr803His | |
| XM_011526125.1:c.2407T>C | XP_011524427.1:p.Tyr803His | |
| XM_011526126.1:c.1342T>C | XP_011524428.1:p.Tyr448His | |
| XM_011526127.1:c.2407T>C | XP_011524429.1:p.Tyr803His | |
| XM_011526128.1:c.2407T>C | XP_011524430.1:p.Tyr803His | |
| XR_935244.1:n.2507T>C | ||
| NM_020964.3:c.2407T>C MANE Select | NP_066015.2:p.Tyr803His | |
| XM_017025889.1:c.2407T>C | XP_016881378.1:p.Tyr803His | |
| XM_017025890.2:c.2407T>C | XP_016881379.1:p.Tyr803His | |
| XM_017025891.1:c.2407T>C | XP_016881380.1:p.Tyr803His | |
| XM_017025892.1:c.1342T>C | XP_016881381.1:p.Tyr448His | |
| XM_017025893.1:c.-709T>C | XP_016881382.1:n.-709T>C | |
| XR_001753256.1:n.2489T>C | ||
| XR_001753257.1:n.2489T>C |