Linked Data
ClinVar Variation Id:
206683
dbSNP Id:
rs763634807
ExAC:
16:29824790 G / A
gnomAD v2:
16-29824790-G-A
gnomAD v3:
16-29813469-G-A
gnomAD v4:
16-29813469-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29813469G>A , CM000678.2:g.29813469G>A | GRCh38 |
| NC_000016.9:g.29824790G>A , CM000678.1:g.29824790G>A | GRCh37 |
| NC_000016.8:g.29732291G>A | NCBI36 |
| NG_032039.1:g.6382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358758.12:c.415G>A MANE Select | ENSP00000351608.7:p.Ala139Thr | |
| ENST00000567551.2:c.339+76G>A | ENSP00000489813.1:n.339+76G>A | |
| ENST00000636019.1:n.88-217G>A | ||
| ENST00000636131.1:c.415G>A | ENSP00000490390.1:p.Ala139Thr | |
| ENST00000636619.1:c.415G>A | ENSP00000489669.1:p.Ala139Thr | |
| ENST00000637064.1:c.415G>A | ENSP00000490826.1:p.Ala139Thr | |
| ENST00000637290.1:c.339+76G>A | ENSP00000490278.1:n.339+76G>A | |
| ENST00000637403.1:c.415G>A | ENSP00000489782.1:p.Ala139Thr | |
| ENST00000637565.1:c.339+76G>A | ENSP00000490207.1:n.339+76G>A | |
| ENST00000647876.1:c.415G>A | ENSP00000498021.1:p.Ala139Thr | |
| ENST00000300797.7:c.415G>A | ENSP00000300797.6:p.Ala139Thr | |
| ENST00000358758.11:c.415G>A | ENSP00000351608.7:p.Ala139Thr | |
| ENST00000567551.1:n.452+76G>A | ||
| ENST00000567659.3:c.415G>A | ENSP00000456226.1:p.Ala139Thr | |
| ENST00000572820.2:c.415G>A | ENSP00000458291.2:p.Ala139Thr | |
| ENST00000609618.2:c.415G>A | ENSP00000476774.2:p.Ala139Thr | |
| NM_001256442.1:c.415G>A | NP_001243371.1:p.Ala139Thr | |
| NM_001256443.1:c.415G>A | NP_001243372.1:p.Ala139Thr | |
| NM_145239.2:c.415G>A | NP_660282.2:p.Ala139Thr | |
| XM_011545715.1:c.415G>A | XP_011544017.1:p.Ala139Thr | |
| XM_011545716.1:c.415G>A | XP_011544018.1:p.Ala139Thr | |
| XM_011545717.1:c.415G>A | XP_011544019.1:p.Ala139Thr | |
| XM_011545718.1:c.415G>A | XP_011544020.1:p.Ala139Thr | |
| XM_011545715.3:c.415G>A | XP_011544017.1:p.Ala139Thr | |
| XM_017022887.2:c.415G>A | XP_016878376.1:p.Ala139Thr | |
| XM_017022888.2:c.415G>A | XP_016878377.1:p.Ala139Thr | |
| XM_017022889.2:c.415G>A | XP_016878378.1:p.Ala139Thr | |
| NM_145239.3:c.415G>A MANE Select | NP_660282.2:p.Ala139Thr | |
| NM_001256442.2:c.415G>A | NP_001243371.1:p.Ala139Thr | |
| NM_001256443.2:c.415G>A | NP_001243372.1:p.Ala139Thr |