Linked Data
dbSNP Id:
rs768648027
ExAC:
16:68835697 C / G
gnomAD v2:
16-68835697-C-G
gnomAD v4:
16-68801794-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801794C>G , CM000678.2:g.68801794C>G | GRCh38 |
| NC_000016.9:g.68835697C>G , CM000678.1:g.68835697C>G | GRCh37 |
| NC_000016.8:g.67393198C>G | NCBI36 |
| NG_008021.1:g.69503C>G , LRG_301:g.69503C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.288C>G MANE Select | ENSP00000261769.4:p.Ile96Met | |
| ENST00000261769.9:c.288C>G | ENSP00000261769.4:p.Ile96Met | |
| ENST00000422392.6:c.288C>G | ENSP00000414946.2:p.Ile96Met | |
| ENST00000561751.1:c.55C>G | ||
| ENST00000562836.5:n.359C>G | ||
| ENST00000564676.5:n.570C>G | ||
| ENST00000564745.1:n.283C>G | ||
| ENST00000566510.5:c.288C>G | ENSP00000458139.1:p.Ile96Met | |
| ENST00000566612.5:c.288C>G | ENSP00000454782.1:p.Ile96Met | |
| ENST00000611625.4:c.288C>G | ENSP00000481063.1:p.Ile96Met | |
| ENST00000612417.4:c.288C>G | ENSP00000478360.1:p.Ile96Met | |
| ENST00000621016.4:c.288C>G | ENSP00000480664.1:p.Ile96Met | |
| NM_004360.3:c.288C>G , LRG_301t1:c.288C>G | NP_004351.1:p.Ile96Met | |
| XM_011523488.1:c.-448C>G | XP_011521790.1:n.-448C>G | |
| XM_011523489.1:c.-448C>G | XP_011521791.1:n.-448C>G | |
| NM_001317184.1:c.288C>G | NP_001304113.1:p.Ile96Met | |
| NM_001317185.1:c.-1328C>G | NP_001304114.1:n.-1328C>G | |
| NM_001317186.1:c.-1532C>G | NP_001304115.1:n.-1532C>G | |
| NM_004360.4:c.288C>G | NP_004351.1:p.Ile96Met | |
| NM_004360.5:c.288C>G MANE Select | NP_004351.1:p.Ile96Met | |
| NM_001317184.2:c.288C>G | NP_001304113.1:p.Ile96Met | |
| NM_001317185.2:c.-1328C>G | NP_001304114.1:n.-1328C>G | |
| NM_001317186.2:c.-1532C>G | NP_001304115.1:n.-1532C>G |