Linked Data
ClinVar Variation Id:
2505324
dbSNP Id:
rs367952133
ExAC:
17:48262919 C / A
gnomAD v2:
17-48262919-C-A
gnomAD v4:
17-50185558-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185558C>A , CM000679.2:g.50185558C>A | GRCh38 |
| NC_000017.10:g.48262919C>A , CM000679.1:g.48262919C>A | GRCh37 |
| NC_000017.9:g.45617918C>A | NCBI36 |
| NG_007400.1:g.21082G>T , LRG_1:g.21082G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4339G>T MANE Select | ENSP00000225964.6:p.Val1447Phe | |
| ENST00000225964.9:c.4339G>T | ENSP00000225964.5:p.Val1447Phe | |
| NM_000088.3:c.4339G>T , LRG_1t1:c.4339G>T | NP_000079.2:p.Val1447Phe | |
| XM_005257058.3:c.4069G>T | XP_005257115.2:p.Val1357Phe | |
| XM_005257059.3:c.3421G>T | XP_005257116.2:p.Val1141Phe | |
| XM_011524341.1:c.4141G>T | XP_011522643.1:p.Val1381Phe | |
| XM_005257058.4:c.4069G>T | XP_005257115.2:p.Val1357Phe | |
| XM_005257059.4:c.3421G>T | XP_005257116.2:p.Val1141Phe | |
| NM_000088.4:c.4339G>T MANE Select | NP_000079.2:p.Val1447Phe |