Linked Data
ClinVar Variation Id:
651338
dbSNP Id:
rs1392546433
gnomAD v2:
1-17355121-T-C
gnomAD v4:
1-17028626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028626T>C , CM000663.2:g.17028626T>C | GRCh38 |
| NC_000001.10:g.17355121T>C , CM000663.1:g.17355121T>C | GRCh37 |
| NC_000001.9:g.17227708T>C | NCBI36 |
| NG_012340.1:g.30545A>G , LRG_316:g.30545A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.226A>G | ENSP00000481376.2:p.Met76Val | |
| ENST00000491274.6:c.355A>G | ENSP00000480482.2:p.Met119Val | |
| ENST00000375499.8:c.397A>G MANE Select | ENSP00000364649.3:p.Met133Val | |
| ENST00000375499.7:c.397A>G | ENSP00000364649.3:p.Met133Val | |
| ENST00000463045.2:c.226A>G | ENSP00000481376.1:p.Met76Val | |
| ENST00000475506.1:n.314A>G | ||
| ENST00000485515.5:n.357+28A>G | ||
| ENST00000491274.5:c.355A>G | ENSP00000480482.1:p.Met119Val | |
| NM_003000.2:c.397A>G , LRG_316t1:c.397A>G | NP_002991.2:p.Met133Val | |
| NM_003000.3:c.397A>G MANE Select | NP_002991.2:p.Met133Val |