Linked Data
ClinVar Variation Id:
658420
ClinVar RCV Id:
RCV000815247
dbSNP Id:
rs1599615059
gnomAD v4:
19-12896317-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896317A>T , CM000681.2:g.12896317A>T | GRCh38 |
| NC_000019.9:g.13007131A>T , CM000681.1:g.13007131A>T | GRCh37 |
| NC_000019.8:g.12868131A>T | NCBI36 |
| NG_009292.1:g.10158A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.748A>T MANE Select | ENSP00000222214.4:p.Ile250Phe | |
| ENST00000222214.9:c.748A>T | ENSP00000222214.4:p.Ile250Phe | |
| ENST00000421816.6:n.726A>T | ||
| ENST00000585420.5:n.1078A>T | ||
| ENST00000590530.5:c.*188A>T | ENSP00000468452.1:n.*188A>T | |
| ENST00000591043.1:n.784A>T | ||
| ENST00000591470.5:c.748A>T | ENSP00000466845.1:p.Ile250Phe | |
| NM_000159.3:c.748A>T | NP_000150.1:p.Ile250Phe | |
| NM_013976.3:c.748A>T | NP_039663.1:p.Ile250Phe | |
| NR_102316.1:n.911A>T | ||
| NR_102317.1:n.1129A>T | ||
| XM_006722721.2:c.748A>T | XP_006722784.1:p.Ile250Phe | |
| XM_011527899.1:c.748A>T | XP_011526201.1:p.Ile250Phe | |
| XM_011527900.1:c.748A>T | XP_011526202.1:p.Ile250Phe | |
| XM_011527899.2:c.748A>T | XP_011526201.1:p.Ile250Phe | |
| XM_011527900.2:c.748A>T | XP_011526202.1:p.Ile250Phe | |
| XM_017026580.1:c.748A>T | XP_016882069.1:p.Ile250Phe | |
| NM_000159.4:c.748A>T MANE Select | NP_000150.1:p.Ile250Phe | |
| NM_013976.4:c.748A>T | NP_039663.1:p.Ile250Phe | |
| NM_013976.5:c.748A>T | NP_039663.1:p.Ile250Phe |