Linked Data
dbSNP Id:
rs556423345
ExAC:
16:14041550 C / G
gnomAD v2:
16-14041550-C-G
gnomAD v4:
16-13947693-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947693C>G , CM000678.2:g.13947693C>G | GRCh38 |
| NC_000016.9:g.14041550C>G , CM000678.1:g.14041550C>G | GRCh37 |
| NC_000016.8:g.13949051C>G | NCBI36 |
| NG_011442.1:g.32537C>G , LRG_463:g.32537C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2235C>G | ENSP00000507912.1:p.Ile745Met | |
| ENST00000683962.1:c.*1791C>G | ENSP00000506854.1:n.*1791C>G | |
| ENST00000311895.8:c.2097C>G MANE Select | ENSP00000310520.7:p.Ile699Met | |
| ENST00000311895.7:c.2097C>G | ENSP00000310520.7:p.Ile699Met | |
| ENST00000389138.7:n.1374C>G | ||
| ENST00000462862.1:c.410C>G | ENSP00000461322.1:n.410C>G | |
| NM_005236.2:c.2097C>G , LRG_463t1:c.2097C>G | NP_005227.1:p.Ile699Met | |
| XM_011522424.1:c.2235C>G | XP_011520726.1:p.Ile745Met | |
| XM_011522425.1:c.1554C>G | XP_011520727.1:p.Ile518Met | |
| XM_011522426.1:c.1308C>G | XP_011520728.1:p.Ile436Met | |
| XM_011522427.1:c.747C>G | XP_011520729.1:p.Ile249Met | |
| XR_932805.1:n.2256C>G | ||
| XM_011522424.3:c.2235C>G | XP_011520726.1:p.Ile745Met | |
| XM_017023043.2:c.1308C>G | XP_016878532.1:p.Ile436Met | |
| NM_005236.3:c.2097C>G MANE Select | NP_005227.1:p.Ile699Met |