Linked Data
ClinVar Variation Id:
502243
dbSNP Id:
rs752337969
ExAC:
4:995900 T / C
gnomAD v2:
4-995900-T-C
gnomAD v3:
4-1002112-T-C
gnomAD v4:
4-1002112-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002112T>C , CM000666.2:g.1002112T>C | GRCh38 |
| NC_000004.11:g.995900T>C , CM000666.1:g.995900T>C | GRCh37 |
| NC_000004.10:g.985900T>C | NCBI36 |
| NG_008103.1:g.20116T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.923T>C | ENSP00000247933.4:p.Leu308Pro | |
| ENST00000514224.2:c.923T>C MANE Select | ENSP00000425081.2:p.Leu308Pro | |
| ENST00000652070.1:n.979T>C | ||
| ENST00000247933.8:c.923T>C | ENSP00000247933.4:p.Leu308Pro | |
| ENST00000514224.1:c.527T>C | ENSP00000425081.1:p.Leu176Pro | |
| ENST00000514698.5:n.923T>C | ||
| NM_000203.4:c.923T>C | NP_000194.2:p.Leu308Pro | |
| NR_110313.1:n.1011T>C | ||
| XM_006713882.2:c.527T>C | XP_006713945.1:p.Leu176Pro | |
| XM_011513459.1:c.882T>C | XP_011511761.1:p.Pro294= | |
| XM_011513460.1:c.782T>C | XP_011511762.1:p.Leu261Pro | |
| XM_011513461.1:c.716T>C | XP_011511763.1:p.Leu239Pro | |
| XM_011513462.1:c.635T>C | XP_011511764.1:p.Leu212Pro | |
| XM_011513463.1:c.635T>C | XP_011511765.1:p.Leu212Pro | |
| XR_924947.1:n.992T>C | ||
| NM_000203.5:c.923T>C MANE Select | NP_000194.2:p.Leu308Pro | |
| NM_001363576.1:c.527T>C | NP_001350505.1:p.Leu176Pro | |
| XM_011513461.2:c.716T>C | XP_011511763.1:p.Leu239Pro | |
| XM_017008163.1:c.-38T>C | XP_016863652.1:n.-38T>C |