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:
1018687
ClinVar RCV Id:
RCV001318027
dbSNP Id:
rs377567759
gnomAD v2:
7-55227884-C-T
gnomAD v3:
7-55160191-C-T
gnomAD v4:
7-55160191-C-T
CIViC:
CA158917074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55160191C>T , CM000669.2:g.55160191C>T | GRCh38 |
| NC_000007.13:g.55227884C>T , CM000669.1:g.55227884C>T | GRCh37 |
| NC_000007.12:g.55195378C>T | NCBI36 |
| NG_007726.3:g.146160C>T , LRG_304:g.146160C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.1192C>T | ENSP00000413354.2:p.Arg398Cys | |
| ENST00000344576.7:c.1351C>T | ENSP00000345973.2:p.Arg451Cys | |
| ENST00000275493.7:c.1351C>T MANE Select | ENSP00000275493.2:p.Arg451Cys | |
| ENST00000275493.6:c.1351C>T | ENSP00000275493.2:p.Arg451Cys | |
| ENST00000342916.7:c.1351C>T | ENSP00000342376.3:p.Arg451Cys | |
| ENST00000344576.6:c.1351C>T | ENSP00000345973.2:p.Arg451Cys | |
| ENST00000442591.5:c.1351C>T | ENSP00000410031.1:p.Arg451Cys | |
| ENST00000454757.6:c.1216C>T | ENSP00000395243.3:p.Arg406Cys | |
| ENST00000455089.5:c.1216C>T | ENSP00000415559.1:p.Arg406Cys | |
| NM_005228.3:c.1351C>T , LRG_304t1:c.1351C>T | NP_005219.2:p.Arg451Cys | |
| NM_201282.1:c.1351C>T | NP_958439.1:p.Arg451Cys | |
| NM_201284.1:c.1351C>T | NP_958441.1:p.Arg451Cys | |
| NM_001346897.1:c.1216C>T | NP_001333826.1:p.Arg406Cys | |
| NM_001346898.1:c.1351C>T | NP_001333827.1:p.Arg451Cys | |
| NM_001346899.1:c.1216C>T | NP_001333828.1:p.Arg406Cys | |
| NM_001346900.1:c.1192C>T | NP_001333829.1:p.Arg398Cys | |
| NM_001346941.1:c.550C>T | NP_001333870.1:p.Arg184Cys | |
| NM_005228.4:c.1351C>T | NP_005219.2:p.Arg451Cys | |
| NM_005228.5:c.1351C>T MANE Select | NP_005219.2:p.Arg451Cys | |
| NM_001346897.2:c.1216C>T | NP_001333826.1:p.Arg406Cys | |
| NM_001346898.2:c.1351C>T | NP_001333827.1:p.Arg451Cys | |
| NM_001346900.2:c.1192C>T | NP_001333829.1:p.Arg398Cys | |
| NM_001346941.2:c.550C>T | NP_001333870.1:p.Arg184Cys | |
| NM_201282.2:c.1351C>T | NP_958439.1:p.Arg451Cys | |
| NM_201284.2:c.1351C>T | NP_958441.1:p.Arg451Cys | |
| NM_001346899.2:c.1216C>T | NP_001333828.1:p.Arg406Cys |