Linked Data
dbSNP Id:
rs760644221
ExAC:
16:88786118 A / C
gnomAD v2:
16-88786118-A-C
gnomAD v4:
16-88719710-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719710A>C , CM000678.2:g.88719710A>C | GRCh38 |
| NC_000016.9:g.88786118A>C , CM000678.1:g.88786118A>C | GRCh37 |
| NC_000016.8:g.87313619A>C | NCBI36 |
| NG_042229.1:g.70511T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6335T>G MANE Select | ENSP00000301015.9:p.Val2112Gly | |
| ENST00000466823.3:c.361T>G | ||
| ENST00000301015.13:c.6335T>G | ENSP00000301015.9:p.Val2112Gly | |
| ENST00000419505.5:c.101T>G | ENSP00000406358.1:p.Val34Gly | |
| ENST00000466823.2:c.361T>G | ||
| ENST00000495568.7:n.576T>G | ||
| ENST00000497793.2:n.490T>G | ||
| NM_001142864.2:c.6335T>G | NP_001136336.2:p.Val2112Gly | |
| NM_001142864.3:c.6335T>G | NP_001136336.2:p.Val2112Gly | |
| NM_001142864.4:c.6335T>G MANE Select | NP_001136336.2:p.Val2112Gly |