Linked Data
ClinVar Variation Id:
5797
ClinVar RCV Id:
RCV000006153
dbSNP Id:
rs104894732
gnomAD v4:
19-35908227-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35908227A>G , CM000681.2:g.35908227A>G | GRCh38 |
| NC_000019.9:g.36399129A>G , CM000681.1:g.36399129A>G | GRCh37 |
| NC_000019.8:g.41090969A>G | NCBI36 |
| NG_009304.1:g.5058T>C , LRG_607:g.5058T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.2T>C MANE Select | ENSP00000262629.3:p.Met1Thr | |
| ENST00000262629.8:c.2T>C | ENSP00000262629.3:p.Met1Thr | |
| ENST00000424586.7:c.2T>C | ENSP00000402371.3:p.Met1Thr | |
| ENST00000544690.6:c.2T>C | ENSP00000445332.1:p.Met1Thr | |
| ENST00000585626.1:n.69T>C | ||
| ENST00000585901.6:c.2T>C | ENSP00000468608.1:p.Met1Thr | |
| ENST00000586946.1:c.2T>C | ENSP00000465656.1:p.Met1Thr | |
| ENST00000587837.5:c.2T>C | ENSP00000465081.1:p.Met1Thr | |
| ENST00000589517.1:c.2T>C | ENSP00000468447.1:p.Met1Thr | |
| NM_001173514.1:c.2T>C | NP_001166985.1:p.Met1Thr | |
| NM_001173515.1:c.2T>C | NP_001166986.1:p.Met1Thr | |
| NM_003332.3:c.2T>C , LRG_607t1:c.2T>C | NP_003323.1:p.Met1Thr | |
| NM_198125.2:c.2T>C | NP_937758.1:p.Met1Thr | |
| NR_033390.1:n.83T>C | ||
| NM_001173514.2:c.2T>C | NP_001166985.1:p.Met1Thr | |
| NM_001173515.2:c.2T>C | NP_001166986.1:p.Met1Thr | |
| NM_003332.4:c.2T>C MANE Select | NP_003323.1:p.Met1Thr | |
| NM_198125.3:c.2T>C | NP_937758.1:p.Met1Thr | |
| NR_033390.2:n.69T>C |