Linked Data
ClinVar Variation Id:
6596
ClinVar RCV Id:
RCV003472993
dbSNP Id:
rs72549397
ExAC:
2:169788931 G / A
gnomAD v2:
2-169788931-G-A
gnomAD v3:
2-168932421-G-A
gnomAD v4:
2-168932421-G-A
PubMed:
PMID:10579978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168932421G>A , CM000664.2:g.168932421G>A | GRCh38 |
| NC_000002.11:g.169788931G>A , CM000664.1:g.169788931G>A | GRCh37 |
| NC_000002.10:g.169497177G>A | NCBI36 |
| NG_007374.1:g.103903C>T | |
| NG_007374.2:g.103976C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649448.1:c.1486C>T | ENSP00000497165.1:p.Arg496Ter | |
| ENST00000650372.1:c.3169C>T MANE Select | ENSP00000497931.1:p.Arg1057Ter | |
| ENST00000263817.6:c.3169C>T | ENSP00000263817.6:p.Arg1057Ter | |
| ENST00000439188.1:c.1858C>T | ENSP00000416058.1:n.1858C>T | |
| NM_003742.2:c.3169C>T | NP_003733.2:p.Arg1057Ter | |
| XM_006712817.2:c.3211C>T | XP_006712880.1:p.Arg1071Ter | |
| XM_011512077.1:c.3271C>T | XP_011510379.1:p.Arg1091Ter | |
| XM_011512078.1:c.3271C>T | XP_011510380.1:p.Arg1091Ter | |
| XM_011512079.1:c.3271C>T | XP_011510381.1:p.Arg1091Ter | |
| XM_011512081.1:c.1495C>T | XP_011510383.1:p.Arg499Ter | |
| NM_003742.4:c.3169C>T MANE Select | NP_003733.2:p.Arg1057Ter | |
| XM_006712817.3:c.3211C>T | XP_006712880.1:p.Arg1071Ter | |
| XM_011512077.2:c.3271C>T | XP_011510379.1:p.Arg1091Ter | |
| XM_011512078.2:c.3271C>T | XP_011510380.1:p.Arg1091Ter | |
| XM_011512081.2:c.1495C>T | XP_011510383.1:p.Arg499Ter | |
| XM_017005165.1:c.3271C>T | XP_016860654.1:p.Arg1091Ter | |
| XM_017005166.1:c.2500C>T | XP_016860655.1:p.Arg834Ter | |
| XM_017005167.1:c.1954C>T | XP_016860656.1:p.Arg652Ter |