Linked Data
ClinVar Variation Id:
349078
dbSNP Id:
rs201201603
ExAC:
4:5630326 C / T
gnomAD v2:
4-5630326-C-T
gnomAD v3:
4-5628599-C-T
gnomAD v4:
4-5628599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5628599C>T , CM000666.2:g.5628599C>T | GRCh38 |
| NC_000004.11:g.5630326C>T , CM000666.1:g.5630326C>T | GRCh37 |
| NC_000004.10:g.5681227C>T | NCBI36 |
| NG_015821.1:g.85950G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.1846G>A MANE Select | ENSP00000342144.5:p.Ala616Thr | |
| ENST00000310917.6:c.1606G>A | ENSP00000311683.2:p.Ala536Thr | |
| ENST00000344408.9:c.1846G>A | ENSP00000342144.5:p.Ala616Thr | |
| ENST00000475313.5:c.1606G>A | ENSP00000431981.1:p.Ala536Thr | |
| ENST00000509670.1:c.*239G>A | ENSP00000423876.1:n.*239G>A | |
| NM_001166136.1:c.1606G>A | NP_001159608.1:p.Ala536Thr | |
| NM_147127.4:c.1846G>A | NP_667338.3:p.Ala616Thr | |
| XM_011513392.1:c.1855G>A | XP_011511694.1:p.Ala619Thr | |
| XM_011513393.1:c.1855G>A | XP_011511695.1:p.Ala619Thr | |
| XM_011513394.1:c.1615G>A | XP_011511696.1:p.Ala539Thr | |
| XM_017007736.1:c.1606G>A | XP_016863225.1:p.Ala536Thr | |
| XM_017007737.1:c.1606G>A | XP_016863226.1:p.Ala536Thr | |
| XM_017007738.1:c.1846G>A | XP_016863227.1:p.Ala616Thr | |
| XM_017007739.1:c.166G>A | XP_016863228.1:p.Ala56Thr | |
| XM_024453893.1:c.166G>A | XP_024309661.1:p.Ala56Thr | |
| XR_001741141.1:n.1911G>A | ||
| NM_147127.5:c.1846G>A MANE Select | NP_667338.3:p.Ala616Thr | |
| NM_001166136.2:c.1606G>A | NP_001159608.1:p.Ala536Thr |