Linked Data
ClinVar Variation Id:
1480262
ClinVar RCV Id:
RCV001985894
dbSNP Id:
rs2136312741
gnomAD v4:
12-65170144-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170144C>G , CM000674.2:g.65170144C>G | GRCh38 |
| NC_000012.11:g.65563924C>G , CM000674.1:g.65563924C>G | GRCh37 |
| NC_000012.10:g.63850191C>G | NCBI36 |
| NG_016210.1:g.5574C>G | |
| NG_016210.2:g.5574C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.548C>G MANE Select | ENSP00000308369.2:p.Thr183Ser | |
| ENST00000308330.2:c.548C>G | ENSP00000308369.2:p.Thr183Ser | |
| ENST00000541171.1:n.562C>G | ||
| NM_001167614.1:c.548C>G | NP_001161086.1:p.Thr183Ser | |
| NM_014319.4:c.548C>G | NP_055134.2:p.Thr183Ser | |
| NM_014319.5:c.548C>G MANE Select | NP_055134.2:p.Thr183Ser | |
| NM_001167614.2:c.548C>G | NP_001161086.1:p.Thr183Ser |