Linked Data
dbSNP Id:
rs769996605
ExAC:
8:37630388 T / G
gnomAD v2:
8-37630388-T-G
gnomAD v4:
8-37772870-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37772870T>G , CM000670.2:g.37772870T>G | GRCh38 |
| NC_000008.10:g.37630388T>G , CM000670.1:g.37630388T>G | GRCh37 |
| NC_000008.9:g.37749546T>G | NCBI36 |
| NG_053030.1:g.16118T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.435T>G MANE Select | ENSP00000333551.3:p.Ile145Met | |
| ENST00000328195.7:c.435T>G | ENSP00000333551.3:p.Ile145Met | |
| ENST00000521631.1:n.118T>G | ||
| ENST00000523187.5:c.279T>G | ENSP00000427886.1:p.Ile93Met | |
| ENST00000523358.5:c.435T>G | ENSP00000427778.1:p.Ile145Met | |
| ENST00000523521.1:c.192T>G | ENSP00000429425.1:p.Ile64Met | |
| NM_007198.3:c.435T>G | NP_009129.1:p.Ile145Met | |
| NM_001349346.1:c.435T>G | NP_001336275.1:p.Ile145Met | |
| NM_001349347.1:c.429T>G | NP_001336276.1:p.Ile143Met | |
| NM_001349348.1:c.279T>G | NP_001336277.1:p.Ile93Met | |
| NM_007198.4:c.435T>G MANE Select | NP_009129.1:p.Ile145Met | |
| NM_001349346.2:c.435T>G | NP_001336275.1:p.Ile145Met | |
| NM_001349347.2:c.429T>G | NP_001336276.1:p.Ile143Met | |
| NM_001349348.2:c.279T>G | NP_001336277.1:p.Ile93Met |