Linked Data
ClinVar Variation Id:
166435
ClinVar RCV Id:
RCV000152570
RCV000505138
RCV000669865
RCV000727077
RCV000787993
RCV001075370
RCV001274933
RCV004544385
dbSNP Id:
rs113107803
ExAC:
1:215848748 T / C
gnomAD v2:
1-215848748-T-C
gnomAD v3:
1-215675406-T-C
gnomAD v4:
1-215675406-T-C
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675406T>C , CM000663.2:g.215675406T>C | GRCh38 |
| NC_000001.10:g.215848748T>C , CM000663.1:g.215848748T>C | GRCh37 |
| NC_000001.9:g.213915371T>C | NCBI36 |
| NG_009497.1:g.752991A>G | |
| NG_009497.2:g.753043A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12505A>G MANE Select | ENSP00000305941.3:p.Thr4169Ala | |
| ENST00000674083.1:c.12505A>G | ENSP00000501296.1:p.Thr4169Ala | |
| ENST00000307340.7:c.12505A>G | ENSP00000305941.3:p.Thr4169Ala | |
| NM_206933.2:c.12505A>G | NP_996816.2:p.Thr4169Ala | |
| NM_206933.3:c.12505A>G | NP_996816.2:p.Thr4169Ala | |
| NM_206933.4:c.12505A>G MANE Select | NP_996816.3:p.Thr4169Ala |