Linked Data
ClinVar Variation Id:
102796
dbSNP Id:
rs199475577
gnomAD v3:
12-102852945-T-G
gnomAD v4:
12-102852945-T-G
ERepo:
CA229705/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852945T>G , CM000674.2:g.102852945T>G | GRCh38 |
| NC_000012.11:g.103246723T>G , CM000674.1:g.103246723T>G | GRCh37 |
| NC_000012.10:g.101770853T>G | NCBI36 |
| NG_008690.1:g.69658A>C | |
| NG_008690.2:g.110466A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.712A>C MANE Select | ENSP00000448059.1:p.Thr238Pro | |
| ENST00000307000.7:c.697A>C | ENSP00000303500.2:p.Thr233Pro | |
| ENST00000549247.6:n.471A>C | ||
| ENST00000553106.5:c.712A>C | ENSP00000448059.1:p.Thr238Pro | |
| NM_000277.1:c.712A>C | NP_000268.1:p.Thr238Pro | |
| XM_011538422.1:c.712A>C | XP_011536724.1:p.Thr238Pro | |
| NM_000277.2:c.712A>C | NP_000268.1:p.Thr238Pro | |
| NM_001354304.1:c.712A>C | NP_001341233.1:p.Thr238Pro | |
| NM_000277.3:c.712A>C MANE Select | NP_000268.1:p.Thr238Pro | |
| NM_001354304.2:c.712A>C | NP_001341233.1:p.Thr238Pro |