Linked Data
ClinVar Variation Id:
8067
ClinVar RCV Id:
RCV000008533
dbSNP Id:
rs121909250
PubMed:
PMID:10866301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110719736G>C , CM000675.2:g.110719736G>C | GRCh38 |
| NC_000013.10:g.111372083G>C , CM000675.1:g.111372083G>C | GRCh37 |
| NC_000013.9:g.110170084G>C | NCBI36 |
| NG_012197.1:g.12001G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375775.4:c.437G>C | ENSP00000364930.3:p.Cys146Ser | |
| ENST00000333219.9:c.644G>C MANE Select | ENSP00000328436.8:p.Cys215Ser | |
| ENST00000333219.8:c.644G>C | ENSP00000328436.7:p.Cys215Ser | |
| ENST00000338450.7:c.512G>C | ENSP00000345202.7:p.Cys171Ser | |
| ENST00000375774.3:c.1073G>C | ENSP00000364929.3:p.Cys358Ser | |
| ENST00000375775.3:c.437G>C | ENSP00000364930.3:p.Cys146Ser | |
| NM_001267728.1:c.593G>C | NP_001254657.1:p.Cys198Ser | |
| NM_005537.5:c.1073G>C | NP_005528.4:p.Cys358Ser | |
| NM_198217.2:c.512G>C | NP_937860.1:p.Cys171Ser | |
| NM_198218.2:c.437G>C | NP_937861.1:p.Cys146Ser | |
| NM_198219.2:c.644G>C | NP_937862.1:p.Cys215Ser | |
| NM_198219.3:c.644G>C MANE Select | NP_937862.1:p.Cys215Ser | |
| NM_198217.3:c.512G>C | NP_937860.1:p.Cys171Ser | |
| NM_198218.3:c.437G>C | NP_937861.1:p.Cys146Ser |