Linked Data
ClinVar Variation Id:
198696
dbSNP Id:
rs794727896
gnomAD v2:
4-996247-C-A
gnomAD v4:
4-1002459-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002459C>A , CM000666.2:g.1002459C>A | GRCh38 |
| NC_000004.11:g.996247C>A , CM000666.1:g.996247C>A | GRCh37 |
| NC_000004.10:g.986247C>A | NCBI36 |
| NG_008103.1:g.20463C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1163C>A | ENSP00000247933.4:p.Thr388Lys | |
| ENST00000514224.2:c.1163C>A MANE Select | ENSP00000425081.2:p.Thr388Lys | |
| ENST00000652070.1:n.1219C>A | ||
| ENST00000247933.8:c.1163C>A | ENSP00000247933.4:p.Thr388Lys | |
| ENST00000514224.1:c.767C>A | ENSP00000425081.1:p.Thr256Lys | |
| ENST00000514698.5:n.1270C>A | ||
| NM_000203.4:c.1163C>A | NP_000194.2:p.Thr388Lys | |
| NR_110313.1:n.1251C>A | ||
| XM_006713882.2:c.767C>A | XP_006713945.1:p.Thr256Lys | |
| XM_011513459.1:c.1229C>A | XP_011511761.1:p.Thr410Lys | |
| XM_011513460.1:c.1022C>A | XP_011511762.1:p.Thr341Lys | |
| XM_011513461.1:c.956C>A | XP_011511763.1:p.Thr319Lys | |
| XM_011513462.1:c.875C>A | XP_011511764.1:p.Thr292Lys | |
| XM_011513463.1:c.875C>A | XP_011511765.1:p.Thr292Lys | |
| XR_924947.1:n.1232C>A | ||
| NM_000203.5:c.1163C>A MANE Select | NP_000194.2:p.Thr388Lys | |
| NM_001363576.1:c.767C>A | NP_001350505.1:p.Thr256Lys | |
| XM_011513461.2:c.956C>A | XP_011511763.1:p.Thr319Lys | |
| XM_017008163.1:c.203C>A | XP_016863652.1:p.Thr68Lys |