Linked Data
ClinVar Variation Id:
462908
dbSNP Id:
rs540997326
ExAC:
16:81129831 G / A
gnomAD v2:
16-81129831-G-A
gnomAD v3:
16-81096226-G-A
gnomAD v4:
16-81096226-G-A
COSMIC:
COSM5948381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81096226G>A , CM000678.2:g.81096226G>A | GRCh38 |
| NC_000016.9:g.81129831G>A , CM000678.1:g.81129831G>A | GRCh37 |
| NC_000016.8:g.79687332G>A | NCBI36 |
| NG_016427.1:g.5150C>T , LRG_541:g.5150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315467.9:c.53C>T MANE Select | ENSP00000319531.3:p.Ala18Val | |
| ENST00000561801.2:c.32C>T | ENSP00000457645.2:p.Ala11Val | |
| ENST00000564386.6:c.40C>T | ||
| ENST00000564536.2:c.53C>T | ENSP00000491651.1:p.Ala18Val | |
| ENST00000569885.6:c.15C>T | ||
| ENST00000638192.1:c.36C>T | ||
| ENST00000638948.1:c.8C>T | ENSP00000491484.1:p.Ala3Val | |
| ENST00000639169.1:c.53C>T | ENSP00000491127.1:p.Ala18Val | |
| ENST00000639689.1:c.53C>T | ENSP00000492187.1:p.Ala18Val | |
| ENST00000640345.1:c.53C>T | ENSP00000492798.1:p.Ala18Val | |
| ENST00000640370.1:c.53C>T | ENSP00000492599.1:p.Ala18Val | |
| ENST00000315467.7:c.53C>T | ENSP00000319531.3:p.Ala18Val | |
| ENST00000561801.1:c.32C>T | ||
| ENST00000564386.5:c.37C>T | ||
| ENST00000564477.1:c.53C>T | ENSP00000455287.1:p.Ala18Val | |
| ENST00000566566.1:c.53C>T | ENSP00000455019.1:p.Ala18Val | |
| ENST00000569885.5:c.15C>T | ||
| NM_004483.4:c.53C>T , LRG_541t1:c.53C>T | NP_004474.2:p.Ala18Val | |
| NR_033249.1:n.150C>T | ||
| XM_017023136.2:c.53C>T | XP_016878625.1:p.Ala18Val | |
| NM_004483.5:c.53C>T MANE Select | NP_004474.2:p.Ala18Val | |
| NR_033249.2:n.170C>T |