Linked Data
ClinVar Variation Id:
662240
dbSNP Id:
rs768808806
ExAC:
17:48263219 G / A
gnomAD v2:
17-48263219-G-A
gnomAD v3:
17-50185858-G-A
gnomAD v4:
17-50185858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185858G>A , CM000679.2:g.50185858G>A | GRCh38 |
| NC_000017.10:g.48263219G>A , CM000679.1:g.48263219G>A | GRCh37 |
| NC_000017.9:g.45618218G>A | NCBI36 |
| NG_007400.1:g.20782C>T , LRG_1:g.20782C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4168C>T MANE Select | ENSP00000225964.6:p.Leu1390Phe | |
| ENST00000225964.9:c.4168C>T | ENSP00000225964.5:p.Leu1390Phe | |
| ENST00000510710.3:n.1133C>T | ||
| NM_000088.3:c.4168C>T , LRG_1t1:c.4168C>T | NP_000079.2:p.Leu1390Phe | |
| XM_005257058.3:c.3898C>T | XP_005257115.2:p.Leu1300Phe | |
| XM_005257059.3:c.3250C>T | XP_005257116.2:p.Leu1084Phe | |
| XM_011524341.1:c.3970C>T | XP_011522643.1:p.Leu1324Phe | |
| XM_005257058.4:c.3898C>T | XP_005257115.2:p.Leu1300Phe | |
| XM_005257059.4:c.3250C>T | XP_005257116.2:p.Leu1084Phe | |
| NM_000088.4:c.4168C>T MANE Select | NP_000079.2:p.Leu1390Phe |