Linked Data
ClinVar Variation Id:
432044
dbSNP Id:
rs1554725724
gnomAD v3:
9-130499550-C-A
gnomAD v4:
9-130499550-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130499550C>A , CM000671.2:g.130499550C>A | GRCh38 |
| NC_000009.11:g.133374937C>A , CM000671.1:g.133374937C>A | GRCh37 |
| NC_000009.10:g.132364758C>A | NCBI36 |
| NG_011542.1:g.59844C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.1173C>A MANE Select | ENSP00000253004.6:p.Phe391Leu | |
| ENST00000352480.9:c.1173C>A | ENSP00000253004.6:p.Phe391Leu | |
| ENST00000372386.6:n.444C>A | ||
| ENST00000372393.7:c.1173C>A | ENSP00000361469.2:p.Phe391Leu | |
| ENST00000372394.5:c.1173C>A | ENSP00000361471.1:p.Phe391Leu | |
| NM_000050.4:c.1173C>A | NP_000041.2:p.Phe391Leu | |
| NM_054012.3:c.1173C>A | NP_446464.1:p.Phe391Leu | |
| XM_005272200.2:c.1173C>A | XP_005272257.1:p.Phe391Leu | |
| XM_011518705.1:c.1287C>A | XP_011517007.1:p.Phe429Leu | |
| XR_930393.1:n.1059+397G>T | ||
| XM_005272200.3:c.1173C>A | XP_005272257.1:p.Phe391Leu | |
| XM_011518705.2:c.1287C>A | XP_011517007.1:p.Phe429Leu | |
| XM_017014729.1:c.1269C>A | XP_016870218.1:p.Phe423Leu | |
| XR_930393.2:n.1101+397G>T | ||
| NM_054012.4:c.1173C>A MANE Select | NP_446464.1:p.Phe391Leu |