Linked Data
dbSNP Id:
rs750917984
ExAC:
16:2335567 A / C
gnomAD v2:
16-2335567-A-C
gnomAD v4:
16-2285566-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285566A>C , CM000678.2:g.2285566A>C | GRCh38 |
| NC_000016.9:g.2335567A>C , CM000678.1:g.2335567A>C | GRCh37 |
| NC_000016.8:g.2275568A>C | NCBI36 |
| NG_011790.1:g.60181T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3359T>G MANE Select | ENSP00000301732.5:p.Val1120Gly | |
| ENST00000301732.9:c.3359T>G | ENSP00000301732.5:p.Val1120Gly | |
| ENST00000382381.7:c.3185T>G | ENSP00000371818.3:p.Val1062Gly | |
| NM_001089.2:c.3359T>G | NP_001080.2:p.Val1120Gly | |
| NM_001089.3:c.3359T>G MANE Select | NP_001080.2:p.Val1120Gly |