Linked Data
ClinVar Variation Id:
434638
dbSNP Id:
rs779470688
ExAC:
16:89258793 G / T
gnomAD v2:
16-89258793-G-T
gnomAD v4:
16-89192385-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89192385G>T , CM000678.2:g.89192385G>T | GRCh38 |
| NC_000016.9:g.89258793G>T , CM000678.1:g.89258793G>T | GRCh37 |
| NC_000016.8:g.87786294G>T | NCBI36 |
| NG_012055.1:g.25631G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.1796G>T MANE Select | ENSP00000289746.2:p.Gly599Val | |
| ENST00000289746.2:c.1796G>T | ENSP00000289746.2:p.Gly599Val | |
| NM_004933.2:c.1796G>T | NP_004924.1:p.Gly599Val | |
| XM_011522806.1:c.1796G>T | XP_011521108.1:p.Gly599Val | |
| NM_004933.3:c.1796G>T MANE Select | NP_004924.1:p.Gly599Val |