Linked Data
ClinVar Variation Id:
21066
dbSNP Id:
rs80338733
ExAC:
19:1399148 T / C
gnomAD v2:
19-1399148-T-C
gnomAD v3:
19-1399149-T-C
gnomAD v4:
19-1399149-T-C
ERepo:
CA341572/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399149T>C , CM000681.2:g.1399149T>C | GRCh38 |
| NC_000019.9:g.1399148T>C , CM000681.1:g.1399148T>C | GRCh37 |
| NC_000019.8:g.1350148T>C | NCBI36 |
| NG_009785.1:g.7405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.438A>G MANE Select | ENSP00000252288.1:p.Thr146= | |
| ENST00000447102.8:c.438A>G | ENSP00000403536.2:p.Thr146= | |
| ENST00000591788.3:c.121A>G | ||
| ENST00000640164.1:n.271A>G | ||
| ENST00000640762.1:c.369A>G | ENSP00000492031.1:p.Thr123= | |
| ENST00000252288.6:c.438A>G | ENSP00000252288.1:p.Thr146= | |
| ENST00000447102.7:c.438A>G | ENSP00000403536.2:p.Thr146= | |
| ENST00000591788.2:c.123A>G | ENSP00000466341.2:p.Thr41= | |
| NM_000156.5:c.438A>G | NP_000147.1:p.Thr146= | |
| NM_138924.2:c.438A>G | NP_620279.1:p.Thr146= | |
| NM_000156.6:c.438A>G MANE Select | NP_000147.1:p.Thr146= | |
| NM_138924.3:c.438A>G | NP_620279.1:p.Thr146= |