Linked Data
ClinVar Variation Id:
102580
dbSNP Id:
rs62644501
gnomAD v2:
12-103234241-T-G
gnomAD v3:
12-102840463-T-G
gnomAD v4:
12-102840463-T-G
ERepo:
CA229418/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840463T>G , CM000674.2:g.102840463T>G | GRCh38 |
| NC_000012.11:g.103234241T>G , CM000674.1:g.103234241T>G | GRCh37 |
| NC_000012.10:g.101758371T>G | NCBI36 |
| NG_008690.1:g.82140A>C | |
| NG_008690.2:g.122948A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1252A>C MANE Select | ENSP00000448059.1:p.Thr418Pro | |
| ENST00000307000.7:c.1237A>C | ENSP00000303500.2:p.Thr413Pro | |
| ENST00000551114.2:n.914A>C | ||
| ENST00000553106.5:c.1252A>C | ENSP00000448059.1:p.Thr418Pro | |
| ENST00000635477.1:c.356A>C | ||
| ENST00000635528.1:n.767A>C | ||
| NM_000277.1:c.1252A>C | NP_000268.1:p.Thr418Pro | |
| XM_011538422.1:c.1195A>C | XP_011536724.1:p.Thr399Pro | |
| NM_000277.2:c.1252A>C | NP_000268.1:p.Thr418Pro | |
| NM_001354304.1:c.1252A>C | NP_001341233.1:p.Thr418Pro | |
| NM_000277.3:c.1252A>C MANE Select | NP_000268.1:p.Thr418Pro | |
| NM_001354304.2:c.1252A>C | NP_001341233.1:p.Thr418Pro |