Linked Data
ClinVar Variation Id:
383395
dbSNP Id:
rs780217716
ExAC:
17:48270391 A / T
gnomAD v2:
17-48270391-A-T
gnomAD v3:
17-50193030-A-T
gnomAD v4:
17-50193030-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50193030A>T , CM000679.2:g.50193030A>T | GRCh38 |
| NC_000017.10:g.48270391A>T , CM000679.1:g.48270391A>T | GRCh37 |
| NC_000017.9:g.45625390A>T | NCBI36 |
| NG_007400.1:g.13610T>A , LRG_1:g.13610T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1785T>A MANE Select | ENSP00000225964.6:p.Ala595= | |
| ENST00000225964.9:c.1785T>A | ENSP00000225964.5:p.Ala595= | |
| ENST00000476387.1:n.134T>A | ||
| NM_000088.3:c.1785T>A , LRG_1t1:c.1785T>A | NP_000079.2:p.Ala595= | |
| XM_005257058.3:c.1785T>A | XP_005257115.2:p.Ala595= | |
| XM_005257059.3:c.958-337T>A | XP_005257116.2:n.958-337T>A | |
| XM_011524341.1:c.1587T>A | XP_011522643.1:p.Ala529= | |
| XM_005257058.4:c.1785T>A | XP_005257115.2:p.Ala595= | |
| XM_005257059.4:c.958-337T>A | XP_005257116.2:n.958-337T>A | |
| NM_000088.4:c.1785T>A MANE Select | NP_000079.2:p.Ala595= |