Linked Data
ClinVar Variation Id:
18001
dbSNP Id:
rs121912711
ExAC:
5:125896786 T / A
gnomAD v2:
5-125896786-T-A
gnomAD v3:
5-126561094-T-A
gnomAD v4:
5-126561094-T-A
PubMed:
PMID:17068770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126561094T>A , CM000667.2:g.126561094T>A | GRCh38 |
| NC_000005.9:g.125896786T>A , CM000667.1:g.125896786T>A | GRCh37 |
| NC_000005.8:g.125924685T>A | NCBI36 |
| NG_008600.2:g.39297A>T | |
| NG_008600.3:g.39297A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.902A>T MANE Select | ENSP00000387123.3:p.Asn301Ile | |
| ENST00000458249.6:c.*811A>T | ENSP00000403929.1:n.*811A>T | |
| ENST00000497231.7:n.1329A>T | ||
| ENST00000503281.6:c.491A>T | ||
| ENST00000509459.6:c.450A>T | ||
| ENST00000635851.1:c.900A>T | ||
| ENST00000636062.1:n.797A>T | ||
| ENST00000636225.1:c.*846A>T | ENSP00000490797.1:n.*846A>T | |
| ENST00000636286.1:n.620A>T | ||
| ENST00000636482.1:n.389A>T | ||
| ENST00000636743.1:c.782A>T | ENSP00000489725.1:p.Asn261Ile | |
| ENST00000636808.1:c.*711A>T | ENSP00000490833.1:n.*711A>T | |
| ENST00000636872.1:c.1062A>T | ENSP00000490919.1:n.1062A>T | |
| ENST00000636879.1:c.947A>T | ENSP00000490811.1:p.Asn316Ile | |
| ENST00000636886.1:c.701A>T | ENSP00000490371.1:p.Asn234Ile | |
| ENST00000637206.1:c.902A>T | ENSP00000489895.1:p.Asn301Ile | |
| ENST00000637272.1:c.902A>T | ENSP00000489686.1:p.Asn301Ile | |
| ENST00000637292.1:c.457A>T | ||
| ENST00000637782.1:c.902A>T | ENSP00000490024.1:p.Asn301Ile | |
| ENST00000637964.1:c.848A>T | ENSP00000490291.1:p.Asn283Ile | |
| ENST00000638008.1:c.*746A>T | ENSP00000490400.1:n.*746A>T | |
| ENST00000409134.7:c.902A>T | ENSP00000387123.3:p.Asn301Ile | |
| ENST00000447989.6:c.983A>T | ENSP00000414132.2:p.Asn328Ile | |
| ENST00000497231.6:n.1112A>T | ||
| ENST00000503281.5:c.491A>T | ||
| ENST00000509459.5:c.450A>T | ||
| ENST00000553117.5:c.902A>T | ENSP00000448593.1:p.Asn301Ile | |
| NM_001182.4:c.902A>T | NP_001173.2:p.Asn301Ile | |
| NM_001201377.1:c.818A>T | NP_001188306.1:p.Asn273Ile | |
| NM_001202404.1:c.983A>T | NP_001189333.1:p.Asn328Ile | |
| XM_011543417.1:c.497A>T | XP_011541719.1:p.Asn166Ile | |
| XM_011543417.2:c.497A>T | XP_011541719.1:p.Asn166Ile | |
| NM_001182.5:c.902A>T MANE Select | NP_001173.2:p.Asn301Ile | |
| NM_001201377.2:c.818A>T | NP_001188306.1:p.Asn273Ile | |
| NM_001202404.2:c.902A>T | NP_001189333.2:p.Asn301Ile |