Linked Data
dbSNP Id:
rs751577009
ExAC:
6:24503523 T / G
gnomAD v2:
6-24503523-T-G
gnomAD v4:
6-24503295-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503295T>G , CM000668.2:g.24503295T>G | GRCh38 |
| NC_000006.11:g.24503523T>G , CM000668.1:g.24503523T>G | GRCh37 |
| NC_000006.10:g.24611502T>G | NCBI36 |
| NG_008161.1:g.13327T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.471T>G MANE Select | ENSP00000350191.3:p.Ile157Met | |
| ENST00000672352.1:c.234T>G | ENSP00000500876.1:p.Ile78Met | |
| ENST00000672557.1:c.389T>G | ||
| ENST00000672652.1:c.392T>G | ||
| ENST00000675422.1:n.1231T>G | ||
| ENST00000348925.2:c.471T>G | ENSP00000314649.3:p.Ile157Met | |
| ENST00000357578.7:c.471T>G | ENSP00000350191.3:p.Ile157Met | |
| ENST00000491546.5:c.387T>G | ENSP00000417687.1:p.Ile129Met | |
| NM_001080.3:c.471T>G MANE Select | NP_001071.1:p.Ile157Met | |
| NM_170740.1:c.471T>G | NP_733936.1:p.Ile157Met | |
| NM_001368954.1:c.471T>G | NP_001355883.1:p.Ile157Met |