Linked Data
dbSNP Id:
rs776767813
ExAC:
16:30748604 A / G
gnomAD v2:
16-30748604-A-G
gnomAD v4:
16-30737283-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30737283A>G , CM000678.2:g.30737283A>G | GRCh38 |
| NC_000016.9:g.30748604A>G , CM000678.1:g.30748604A>G | GRCh37 |
| NC_000016.8:g.30656105A>G | NCBI36 |
| NG_032135.1:g.43143A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411466.7:c.7243A>G | ENSP00000405186.3:p.Ile2415Val | |
| ENST00000704023.1:c.1523A>G | ||
| ENST00000706321.1:c.7243A>G | ENSP00000516346.1:p.Ile2415Val | |
| ENST00000262518.9:c.7243A>G MANE Select | ENSP00000262518.4:p.Ile2415Val | |
| ENST00000262518.8:c.7243A>G | ENSP00000262518.4:p.Ile2415Val | |
| ENST00000380361.7:c.6712A>G | ENSP00000369719.3:p.Ile2238Val | |
| ENST00000395059.6:c.6466A>G | ENSP00000378499.3:p.Ile2156Val | |
| NM_006662.2:c.7243A>G | NP_006653.2:p.Ile2415Val | |
| NM_006662.3:c.7243A>G MANE Select | NP_006653.2:p.Ile2415Val |