UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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 |