Linked Data
ClinVar Variation Id:
11916
ClinVar RCV Id:
RCV000012691
dbSNP Id:
rs121965024
PubMed:
PMID:8328452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002392A>C , CM000666.2:g.1002392A>C | GRCh38 |
| NC_000004.11:g.996180A>C , CM000666.1:g.996180A>C | GRCh37 |
| NC_000004.10:g.986180A>C | NCBI36 |
| NG_008103.1:g.20396A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1096A>C | ENSP00000247933.4:p.Thr366Pro | |
| ENST00000514224.2:c.1096A>C MANE Select | ENSP00000425081.2:p.Thr366Pro | |
| ENST00000652070.1:n.1152A>C | ||
| ENST00000247933.8:c.1096A>C | ENSP00000247933.4:p.Thr366Pro | |
| ENST00000514224.1:c.700A>C | ENSP00000425081.1:p.Thr234Pro | |
| ENST00000514698.5:n.1203A>C | ||
| NM_000203.4:c.1096A>C | NP_000194.2:p.Thr366Pro | |
| NR_110313.1:n.1184A>C | ||
| XM_006713882.2:c.700A>C | XP_006713945.1:p.Thr234Pro | |
| XM_011513459.1:c.1162A>C | XP_011511761.1:p.Thr388Pro | |
| XM_011513460.1:c.955A>C | XP_011511762.1:p.Thr319Pro | |
| XM_011513461.1:c.889A>C | XP_011511763.1:p.Thr297Pro | |
| XM_011513462.1:c.808A>C | XP_011511764.1:p.Thr270Pro | |
| XM_011513463.1:c.808A>C | XP_011511765.1:p.Thr270Pro | |
| XR_924947.1:n.1165A>C | ||
| NM_000203.5:c.1096A>C MANE Select | NP_000194.2:p.Thr366Pro | |
| NM_001363576.1:c.700A>C | NP_001350505.1:p.Thr234Pro | |
| XM_011513461.2:c.889A>C | XP_011511763.1:p.Thr297Pro | |
| XM_017008163.1:c.136A>C | XP_016863652.1:p.Thr46Pro |