Linked Data
ClinVar Variation Id:
389403
dbSNP Id:
rs375227294
ExAC:
16:69370471 G / A
gnomAD v2:
16-69370471-G-A
gnomAD v3:
16-69336568-G-A
gnomAD v4:
16-69336568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69336568G>A , CM000678.2:g.69336568G>A | GRCh38 |
| NC_000016.9:g.69370471G>A , CM000678.1:g.69370471G>A | GRCh37 |
| NC_000016.8:g.67927972G>A | NCBI36 |
| NG_009013.1:g.8056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.522C>T MANE Select | ENSP00000305459.6:p.Ala174= | |
| ENST00000306875.8:c.522C>T | ENSP00000305459.4:p.Ala174= | |
| ENST00000562081.2:c.522C>T | ENSP00000455954.1:p.Ala174= | |
| ENST00000562595.5:c.463C>T | ||
| ENST00000563634.1:c.147C>T | ENSP00000454500.1:p.Ala49= | |
| ENST00000564737.1:c.611C>T | ||
| ENST00000567493.1:c.102C>T | ENSP00000464395.1:p.Ala34= | |
| ENST00000570293.5:c.461C>T | ENSP00000464417.1:n.461C>T | |
| NM_032382.4:c.522C>T | NP_115758.3:p.Ala174= | |
| NM_001374871.1:c.522C>T | NP_001361800.1:p.Ala174= | |
| NM_032382.5:c.522C>T MANE Select | NP_115758.3:p.Ala174= | |
| NM_001379261.1:c.522C>T | NP_001366190.1:p.Ala174= | |
| NM_001379262.1:c.522C>T | NP_001366191.1:p.Ala174= | |
| NM_001379263.1:c.522C>T | NP_001366192.1:p.Ala174= | |
| NM_001379264.1:c.522C>T | NP_001366193.1:p.Ala174= | |
| NM_001379265.1:c.522C>T | NP_001366194.1:p.Ala174= | |
| NM_001379266.1:c.522C>T | NP_001366195.1:p.Ala174= |