Linked Data
ClinVar Variation Id:
2966933
ClinVar RCV Id:
RCV003829067
dbSNP Id:
rs1064797131
gnomAD v2:
1-215848834-C-G
gnomAD v4:
1-215675492-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675492C>G , CM000663.2:g.215675492C>G | GRCh38 |
| NC_000001.10:g.215848834C>G , CM000663.1:g.215848834C>G | GRCh37 |
| NC_000001.9:g.213915457C>G | NCBI36 |
| NG_009497.1:g.752905G>C | |
| NG_009497.2:g.752957G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12419G>C MANE Select | ENSP00000305941.3:p.Cys4140Ser | |
| ENST00000674083.1:c.12419G>C | ENSP00000501296.1:p.Cys4140Ser | |
| ENST00000307340.7:c.12419G>C | ENSP00000305941.3:p.Cys4140Ser | |
| NM_206933.2:c.12419G>C | NP_996816.2:p.Cys4140Ser | |
| NM_206933.3:c.12419G>C | NP_996816.2:p.Cys4140Ser | |
| NM_206933.4:c.12419G>C MANE Select | NP_996816.3:p.Cys4140Ser |