Linked Data
ClinVar Variation Id:
1766612
ClinVar RCV Id:
RCV002371653
MyVariant Identifiers:
chr11:g.67258404A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490933A>C , CM000673.2:g.67490933A>C | GRCh38 |
| NC_000011.9:g.67258404A>C , CM000673.1:g.67258404A>C | GRCh37 |
| NC_000011.8:g.67014980A>C | NCBI36 |
| NG_008969.1:g.12900A>C , LRG_460:g.12900A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.1240A>C | ||
| ENST00000528641.7:c.744A>C | ENSP00000434982.3:p.Ala248= | |
| ENST00000529797.2:n.1775A>C | ||
| ENST00000682324.1:c.469-64A>C | ENSP00000508017.1:n.469-64A>C | |
| ENST00000682659.1:c.564A>C | ENSP00000507351.1:p.Ala188= | |
| ENST00000682699.1:c.933A>C | ENSP00000507935.1:p.Ala311= | |
| ENST00000683237.1:c.*73A>C | ENSP00000507343.1:n.*73A>C | |
| ENST00000683856.1:c.756A>C | ENSP00000507979.1:p.Ala252= | |
| ENST00000684006.1:c.*73A>C | ENSP00000507269.1:n.*73A>C | |
| ENST00000684657.1:c.753A>C | ENSP00000507961.1:p.Ala251= | |
| ENST00000279146.8:c.933A>C MANE Select | ENSP00000279146.3:p.Ala311= | |
| ENST00000279146.7:c.933A>C | ENSP00000279146.3:p.Ala311= | |
| NM_001302959.1:c.756A>C | NP_001289888.1:p.Ala252= | |
| NM_001302960.1:c.*73A>C | NP_001289889.1:n.*73A>C | |
| NM_003977.3:c.933A>C | NP_003968.3:p.Ala311= | |
| XM_024448761.1:c.933A>C | XP_024304529.1:p.Ala311= | |
| NM_003977.4:c.933A>C MANE Select | NP_003968.3:p.Ala311= | |
| NM_001302960.2:c.*73A>C | NP_001289889.1:n.*73A>C | |
| NM_001302959.2:c.756A>C | NP_001289888.1:p.Ala252= |