Linked Data
ClinVar Variation Id:
1123226
dbSNP Id:
rs765224053
ExAC:
17:48262890 G / A
gnomAD v2:
17-48262890-G-A
gnomAD v3:
17-50185529-G-A
gnomAD v4:
17-50185529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185529G>A , CM000679.2:g.50185529G>A | GRCh38 |
| NC_000017.10:g.48262890G>A , CM000679.1:g.48262890G>A | GRCh37 |
| NC_000017.9:g.45617889G>A | NCBI36 |
| NG_007400.1:g.21111C>T , LRG_1:g.21111C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4368C>T MANE Select | ENSP00000225964.6:p.Phe1456= | |
| ENST00000225964.9:c.4368C>T | ENSP00000225964.5:p.Phe1456= | |
| NM_000088.3:c.4368C>T , LRG_1t1:c.4368C>T | NP_000079.2:p.Phe1456= | |
| XM_005257058.3:c.4098C>T | XP_005257115.2:p.Phe1366= | |
| XM_005257059.3:c.3450C>T | XP_005257116.2:p.Phe1150= | |
| XM_011524341.1:c.4170C>T | XP_011522643.1:p.Phe1390= | |
| XM_005257058.4:c.4098C>T | XP_005257115.2:p.Phe1366= | |
| XM_005257059.4:c.3450C>T | XP_005257116.2:p.Phe1150= | |
| NM_000088.4:c.4368C>T MANE Select | NP_000079.2:p.Phe1456= |