Linked Data
ClinVar Variation Id:
134100
dbSNP Id:
rs34517175
ExAC:
19:45855906 G / A
gnomAD v2:
19-45855906-G-A
gnomAD v3:
19-45352648-G-A
gnomAD v4:
19-45352648-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352648G>A , CM000681.2:g.45352648G>A | GRCh38 |
| NC_000019.9:g.45855906G>A , CM000681.1:g.45855906G>A | GRCh37 |
| NC_000019.8:g.50547746G>A | NCBI36 |
| NG_007067.2:g.22940C>T , LRG_461:g.22940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1904C>T | ENSP00000375808.4:p.Ala635Val | |
| ENST00000682414.1:c.1904C>T | ENSP00000507019.1:p.Ala635Val | |
| ENST00000682508.1:n.1933C>T | ||
| ENST00000684218.1:c.*1162C>T | ENSP00000507804.1:n.*1162C>T | |
| ENST00000684264.1:n.1460C>T | ||
| ENST00000684407.1:c.1781C>T | ENSP00000507775.1:p.Ala594Val | |
| ENST00000684458.1:c.*390C>T | ENSP00000508260.1:n.*390C>T | |
| ENST00000684468.1:n.1616C>T | ||
| ENST00000391945.10:c.1904C>T MANE Select | ENSP00000375809.4:p.Ala635Val | |
| ENST00000646507.1:n.2001C>T | ||
| ENST00000391941.6:c.1832C>T | ENSP00000375805.2:p.Ala611Val | |
| ENST00000391942.6:n.1075C>T | ||
| ENST00000391944.7:c.1670C>T | ENSP00000375808.3:p.Ala557Val | |
| ENST00000391945.8:c.1904C>T | ENSP00000375809.3:p.Ala635Val | |
| ENST00000588652.5:n.1992C>T | ||
| NM_000400.3:c.1904C>T , LRG_461t1:c.1904C>T | NP_000391.1:p.Ala635Val | |
| XM_011526611.1:c.1826C>T | XP_011524913.1:p.Ala609Val | |
| XM_011526611.2:c.1826C>T | XP_011524913.1:p.Ala609Val | |
| XM_017026467.1:c.1781C>T | XP_016881956.1:p.Ala594Val | |
| XR_001753633.2:n.1951C>T | ||
| XR_001753634.2:n.1887C>T | ||
| NM_000400.4:c.1904C>T MANE Select | NP_000391.1:p.Ala635Val |