Linked Data
ClinVar Variation Id:
1767243
dbSNP Id:
rs149720064
ExAC:
16:2367688 G / A
gnomAD v2:
16-2367688-G-A
gnomAD v3:
16-2317687-G-A
gnomAD v4:
16-2317687-G-A
MyVariant Identifiers:
chr16:g.2367688G>A (hg19)
chr16:g.2367688_2367695delinsAAGGAGGA (hg19)
chr16:g.2317687G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2317687G>A , CM000678.2:g.2317687G>A | GRCh38 |
| NC_000016.9:g.2367688G>A , CM000678.1:g.2367688G>A | GRCh37 |
| NC_000016.8:g.2307689G>A | NCBI36 |
| NG_011790.1:g.28060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.951C>T MANE Select | ENSP00000301732.5:p.Leu317= | |
| ENST00000301732.9:c.951C>T | ENSP00000301732.5:p.Leu317= | |
| ENST00000382381.7:c.951C>T | ENSP00000371818.3:p.Leu317= | |
| ENST00000563623.5:n.1514C>T | ||
| NM_001089.2:c.951C>T | NP_001080.2:p.Leu317= | |
| NM_001089.3:c.951C>T MANE Select | NP_001080.2:p.Leu317= |