Linked Data
ClinVar Variation Id:
178462
dbSNP Id:
rs141612979
ExAC:
10:26356002 A / C
gnomAD v2:
10-26356002-A-C
gnomAD v3:
10-26067073-A-C
gnomAD v4:
10-26067073-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26067073A>C , CM000672.2:g.26067073A>C | GRCh38 |
| NC_000010.10:g.26356002A>C , CM000672.1:g.26356002A>C | GRCh37 |
| NC_000010.9:g.26396008A>C | NCBI36 |
| NG_011635.1:g.138001A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642197.1:n.1256A>C | ||
| ENST00000642920.2:c.1052A>C MANE Select | ENSP00000495965.1:p.Glu351Ala | |
| ENST00000647478.1:c.1052A>C | ENSP00000493932.1:p.Glu351Ala | |
| ENST00000265944.9:c.1052A>C | ENSP00000265944.4:p.Glu351Ala | |
| ENST00000543632.5:c.1052A>C | ENSP00000445909.1:p.Glu351Ala | |
| NM_017433.4:c.1052A>C | NP_059129.3:p.Glu351Ala | |
| XM_011519498.1:c.1052A>C | XP_011517800.1:p.Glu351Ala | |
| XM_011519499.1:c.1052A>C | XP_011517801.1:p.Glu351Ala | |
| XM_011519500.1:c.1052A>C | XP_011517802.1:p.Glu351Ala | |
| XM_011519501.1:c.1052A>C | XP_011517803.1:p.Glu351Ala | |
| XM_011519502.1:c.1052A>C | XP_011517804.1:p.Glu351Ala | |
| XM_011519503.1:c.1052A>C | XP_011517805.1:p.Glu351Ala | |
| XM_011519504.1:c.1052A>C | XP_011517806.1:p.Glu351Ala | |
| XM_011519505.1:c.1052A>C | XP_011517807.1:p.Glu351Ala | |
| XM_011519506.1:c.1052A>C | XP_011517808.1:p.Glu351Ala | |
| XM_011519507.1:c.689A>C | XP_011517809.1:p.Glu230Ala | |
| XM_011519508.1:c.1052A>C | XP_011517810.1:p.Glu351Ala | |
| XM_011519509.1:c.1052A>C | XP_011517811.1:p.Glu351Ala | |
| XM_011519510.1:c.1052A>C | XP_011517812.1:p.Glu351Ala | |
| XM_011519511.1:c.1052A>C | XP_011517813.1:p.Glu351Ala | |
| XR_930492.1:n.1256A>C | ||
| XR_930493.1:n.1256A>C | ||
| XR_930494.1:n.1256A>C | ||
| XM_011519498.2:c.1052A>C | XP_011517800.1:p.Glu351Ala | |
| XM_011519500.2:c.1052A>C | XP_011517802.1:p.Glu351Ala | |
| XM_011519506.2:c.1052A>C | XP_011517808.1:p.Glu351Ala | |
| XM_011519508.2:c.1052A>C | XP_011517810.1:p.Glu351Ala | |
| XM_011519510.2:c.1052A>C | XP_011517812.1:p.Glu351Ala | |
| XM_011519511.2:c.1052A>C | XP_011517813.1:p.Glu351Ala | |
| XR_001747111.1:n.1256A>C | ||
| NM_017433.5:c.1052A>C MANE Select | NP_059129.3:p.Glu351Ala |