Linked Data
ClinVar Variation Id:
3155575
ClinVar RCV Id:
RCV004449384
dbSNP Id:
rs372098871
ExAC:
1:193045013 A / C
gnomAD v2:
1-193045013-A-C
gnomAD v3:
1-193075883-A-C
gnomAD v4:
1-193075883-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193075883A>C , CM000663.2:g.193075883A>C | GRCh38 |
| NC_000001.10:g.193045013A>C , CM000663.1:g.193045013A>C | GRCh37 |
| NC_000001.9:g.191311636A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400968.7:c.644A>C MANE Select | ENSP00000383752.2:p.Glu215Ala | |
| ENST00000367441.1:c.644A>C | ENSP00000356411.1:p.Glu215Ala | |
| ENST00000367443.5:c.644A>C | ENSP00000356413.1:p.Glu215Ala | |
| ENST00000367444.7:c.644A>C | ENSP00000356414.3:p.Glu215Ala | |
| ENST00000367445.7:c.644A>C | ENSP00000356415.3:p.Glu215Ala | |
| ENST00000367446.7:c.644A>C | ENSP00000356416.3:p.Glu215Ala | |
| ENST00000400968.6:c.644A>C | ENSP00000383752.2:p.Glu215Ala | |
| ENST00000415442.2:c.191A>C | ENSP00000401176.2:p.Glu64Ala | |
| ENST00000432079.5:c.-182A>C | ENSP00000472298.1:n.-182A>C | |
| ENST00000460715.2:n.155-618A>C | ||
| ENST00000512587.1:c.533A>C | ENSP00000424612.1:p.Glu178Ala | |
| NM_001042369.2:c.644A>C | NP_001035828.1:p.Glu215Ala | |
| NM_001042370.2:c.644A>C | NP_001035829.2:p.Glu215Ala | |
| NM_001173524.1:c.644A>C | NP_001166995.1:p.Glu215Ala | |
| NM_001173525.1:c.644A>C | NP_001166996.1:p.Glu215Ala | |
| NM_004600.5:c.644A>C | NP_004591.2:p.Glu215Ala | |
| NR_033393.1:n.419A>C | ||
| XM_006711495.2:c.710A>C | XP_006711558.1:p.Glu237Ala | |
| XM_006711496.2:c.710A>C | XP_006711559.1:p.Glu237Ala | |
| XM_006711497.2:c.644A>C | XP_006711560.1:p.Glu215Ala | |
| XM_011509920.1:c.710A>C | XP_011508222.1:p.Glu237Ala | |
| XM_011509921.1:c.-182A>C | XP_011508223.1:n.-182A>C | |
| XM_011509922.1:c.-182A>C | XP_011508224.1:n.-182A>C | |
| NM_001331020.1:c.-182A>C | NP_001317949.1:n.-182A>C | |
| XM_006711495.4:c.710A>C | XP_006711558.1:p.Glu237Ala | |
| XM_006711496.3:c.710A>C | XP_006711559.1:p.Glu237Ala | |
| XM_006711497.3:c.644A>C | XP_006711560.1:p.Glu215Ala | |
| XM_011509922.2:c.-182A>C | XP_011508224.1:n.-182A>C | |
| XM_017002180.1:c.710A>C | XP_016857669.1:p.Glu237Ala | |
| XM_017002181.2:c.644A>C | XP_016857670.1:p.Glu215Ala | |
| XM_017002182.1:c.644A>C | XP_016857671.1:p.Glu215Ala | |
| XM_017002183.1:c.-24-618A>C | XP_016857672.1:n.-24-618A>C | |
| XM_024449332.1:c.644A>C | XP_024305100.1:p.Glu215Ala | |
| NM_001173524.2:c.644A>C MANE Select | NP_001166995.1:p.Glu215Ala | |
| NM_001331020.2:c.-182A>C | NP_001317949.1:n.-182A>C |