Linked Data
ClinVar Variation Id:
3206309
ClinVar RCV Id:
RCV004499708
dbSNP Id:
rs143594095
ExAC:
11:55579043 T / C
gnomAD v2:
11-55579043-T-C
gnomAD v3:
11-55811567-T-C
gnomAD v4:
11-55811567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811567T>C , CM000673.2:g.55811567T>C | GRCh38 |
| NC_000011.9:g.55579043T>C , CM000673.1:g.55579043T>C | GRCh37 |
| NC_000011.8:g.55335619T>C | NCBI36 |
| NG_052620.1:g.5201T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.101T>C MANE Select | ENSP00000485319.1:p.Ile34Thr | |
| ENST00000333973.3:c.101T>C | ENSP00000335529.2:p.Ile34Thr | |
| ENST00000623450.1:c.101T>C | ENSP00000485509.1:p.Ile34Thr | |
| ENST00000625203.1:c.101T>C | ENSP00000485319.1:p.Ile34Thr | |
| NM_001004738.1:c.101T>C | NP_001004738.1:p.Ile34Thr | |
| NM_001004738.2:c.101T>C MANE Select | NP_001004738.1:p.Ile34Thr |