Linked Data
ClinVar Variation Id:
2439727
ClinVar RCV Id:
RCV003143978
dbSNP Id:
rs2053910556
gnomAD v3:
15-42402807-A-G
gnomAD v4:
15-42402807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42402807A>G , CM000677.2:g.42402807A>G | GRCh38 |
| NC_000015.9:g.42695005A>G , CM000677.1:g.42695005A>G | GRCh37 |
| NC_000015.8:g.40482297A>G | NCBI36 |
| NG_008660.1:g.59705A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.1406A>G | ENSP00000183936.4:p.Lys469Arg | |
| ENST00000357568.8:c.1550A>G | ENSP00000350181.3:p.Lys517Arg | |
| ENST00000397163.8:c.1550A>G MANE Select | ENSP00000380349.3:p.Lys517Arg | |
| ENST00000466369.5:n.2059A>G | ||
| ENST00000483208.5:n.2439A>G | ||
| ENST00000495723.1:n.2439A>G | ||
| ENST00000549793.5:n.1781A>G | ||
| ENST00000638141.2:n.1421A>G | ||
| ENST00000673646.1:c.14A>G | ENSP00000501007.1:p.Lys5Arg | |
| ENST00000673705.1:c.309+3155A>G | ENSP00000501021.1:n.309+3155A>G | |
| ENST00000673813.1:n.472A>G | ||
| ENST00000318023.11:c.1406A>G | ENSP00000326281.8:p.Lys469Arg | |
| ENST00000349748.7:c.1406A>G | ENSP00000183936.4:p.Lys469Arg | |
| ENST00000357568.7:c.1550A>G | ENSP00000350181.3:p.Lys517Arg | |
| ENST00000397163.7:c.1550A>G | ENSP00000380349.3:p.Lys517Arg | |
| ENST00000397200.8:c.14A>G | ENSP00000380384.4:p.Lys5Arg | |
| ENST00000567071.5:c.9A>G | ||
| ENST00000569827.5:c.14A>G | ENSP00000454379.1:p.Lys5Arg | |
| NM_000070.2:c.1550A>G | NP_000061.1:p.Lys517Arg | |
| NM_024344.1:c.1550A>G | NP_077320.1:p.Lys517Arg | |
| NM_173087.1:c.1406A>G | NP_775110.1:p.Lys469Arg | |
| NM_173088.1:c.14A>G | NP_775111.1:p.Lys5Arg | |
| NM_000070.3:c.1550A>G MANE Select | NP_000061.1:p.Lys517Arg | |
| NM_024344.2:c.1550A>G | NP_077320.1:p.Lys517Arg | |
| NM_173087.2:c.1406A>G | NP_775110.1:p.Lys469Arg | |
| NM_173088.2:c.14A>G | NP_775111.1:p.Lys5Arg |