Linked Data
ClinVar Variation Id:
44336
ClinVar RCV Id:
RCV000037324
RCV000228063
RCV000249584
RCV000577944
RCV000578059
RCV000577946
RCV000578024
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= |