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:
44336
ClinVar RCV Id:
RCV000037324
RCV000228063
RCV000249584
RCV000577944
RCV000577946
RCV000578024
RCV000578059
RCV001529780
dbSNP Id:
rs55980825
ExAC:
8:11607658 C / T
gnomAD v2:
8-11607658-C-T
gnomAD v3:
8-11750149-C-T
gnomAD v4:
8-11750149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11750149C>T , CM000670.2:g.11750149C>T | GRCh38 |
| NC_000008.10:g.11607658C>T , CM000670.1:g.11607658C>T | GRCh37 |
| NC_000008.9:g.11645067C>T | NCBI36 |
| NG_008177.2:g.78231C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622443.3:c.822C>T | ENSP00000482268.2:p.Cys274= | |
| ENST00000532059.6:c.825C>T MANE Select | ENSP00000435712.1:p.Cys275= | |
| ENST00000335135.8:c.822C>T | ENSP00000334458.4:p.Cys274= | |
| ENST00000526716.5:c.204C>T | ENSP00000435347.1:p.Cys68= | |
| ENST00000528712.5:c.204C>T | ENSP00000435043.1:p.Cys68= | |
| ENST00000532059.5:c.825C>T | ENSP00000435712.1:p.Cys275= | |
| ENST00000622443.2:c.819C>T | ENSP00000482268.1:p.Cys273= | |
| NM_001308093.1:c.825C>T | NP_001295022.1:p.Cys275= | |
| NM_001308094.1:c.204C>T | NP_001295023.1:p.Cys68= | |
| NM_002052.3:c.822C>T | NP_002043.2:p.Cys274= | |
| NM_002052.4:c.822C>T | NP_002043.2:p.Cys274= | |
| XM_005272385.3:c.825C>T | XP_005272442.1:p.Cys275= | |
| XM_005272386.1:c.825C>T | XP_005272443.1:p.Cys275= | |
| XM_006716248.1:c.825C>T | XP_006716311.1:p.Cys275= | |
| XM_011543817.1:c.825C>T | XP_011542119.1:p.Cys275= | |
| XM_011543818.1:c.825C>T | XP_011542120.1:p.Cys275= | |
| XM_005272385.4:c.825C>T | XP_005272442.1:p.Cys275= | |
| XM_011543817.3:c.825C>T | XP_011542119.1:p.Cys275= | |
| XM_011543818.2:c.825C>T | XP_011542120.1:p.Cys275= | |
| XM_017013312.2:c.825C>T | XP_016868801.1:p.Cys275= | |
| NM_001308093.3:c.825C>T MANE Select | NP_001295022.1:p.Cys275= | |
| NM_001308094.2:c.204C>T | NP_001295023.1:p.Cys68= | |
| NM_001374273.1:c.204C>T | NP_001361202.1:p.Cys68= | |
| NM_001374274.1:c.165+1064C>T | NP_001361203.1:n.165+1064C>T | |
| NM_002052.5:c.822C>T | NP_002043.2:p.Cys274= |