Linked Data
ClinVar Variation Id:
1573434
dbSNP Id:
rs145485055
ExAC:
1:205138632 T / G
gnomAD v2:
1-205138632-T-G
gnomAD v3:
1-205169504-T-G
gnomAD v4:
1-205169504-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205169504T>G , CM000663.2:g.205169504T>G | GRCh38 |
| NC_000001.10:g.205138632T>G , CM000663.1:g.205138632T>G | GRCh37 |
| NC_000001.9:g.203405255T>G | NCBI36 |
| NG_033904.1:g.47096A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367162.8:c.983A>C MANE Select | ENSP00000356130.3:p.Lys328Thr | |
| ENST00000367161.7:c.983A>C | ENSP00000356129.3:p.Lys328Thr | |
| ENST00000367162.7:c.983A>C | ENSP00000356130.3:p.Lys328Thr | |
| ENST00000615388.1:c.-90+3533A>C | ENSP00000478016.1:n.-90+3533A>C | |
| NM_015375.2:c.983A>C | NP_056190.1:p.Lys328Thr | |
| NM_199462.2:c.983A>C | NP_955749.1:p.Lys328Thr | |
| XM_011509392.1:c.956A>C | XP_011507694.1:p.Lys319Thr | |
| XM_011509393.1:c.398A>C | XP_011507695.1:p.Lys133Thr | |
| XM_011509394.1:c.356A>C | XP_011507696.1:p.Lys119Thr | |
| XM_011509392.2:c.956A>C | XP_011507694.1:p.Lys319Thr | |
| XM_011509393.2:c.398A>C | XP_011507695.1:p.Lys133Thr | |
| XM_011509394.2:c.356A>C | XP_011507696.1:p.Lys119Thr | |
| NM_015375.3:c.983A>C MANE Select | NP_056190.1:p.Lys328Thr | |
| NM_199462.3:c.983A>C | NP_955749.1:p.Lys328Thr |