Linked Data
ClinVar Variation Id:
2247713
ClinVar RCV Id:
RCV002752184
dbSNP Id:
rs1658612715
gnomAD v4:
1-220191210-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220191210A>T , CM000663.2:g.220191210A>T | GRCh38 |
| NC_000001.10:g.220364552A>T , CM000663.1:g.220364552A>T | GRCh37 |
| NC_000001.9:g.218431175A>T | NCBI36 |
| NG_015837.1:g.86292T>A | |
| NG_015837.2:g.86292T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.1345T>A | ENSP00000509457.1:p.Phe449Ile | |
| ENST00000685664.1:c.1345T>A | ENSP00000509121.1:p.Phe449Ile | |
| ENST00000686381.1:c.1081T>A | ENSP00000509555.1:p.Phe361Ile | |
| ENST00000687065.1:c.1081T>A | ENSP00000510408.1:p.Phe361Ile | |
| ENST00000687394.1:n.1451T>A | ||
| ENST00000687647.1:c.1081T>A | ENSP00000509205.1:p.Phe361Ile | |
| ENST00000688035.1:n.1760T>A | ||
| ENST00000690315.1:c.1246T>A | ENSP00000509834.1:p.Phe416Ile | |
| ENST00000690373.1:n.1684T>A | ||
| ENST00000690379.1:n.1375T>A | ||
| ENST00000690824.1:c.1345T>A | ENSP00000510709.1:p.Phe449Ile | |
| ENST00000691661.1:c.1357T>A | ENSP00000510185.1:p.Phe453Ile | |
| ENST00000691862.1:c.1243T>A | ENSP00000509291.1:p.Phe415Ile | |
| ENST00000692813.1:c.1345T>A | ENSP00000509080.1:p.Phe449Ile | |
| ENST00000692972.1:c.1420T>A | ENSP00000510753.1:p.Phe474Ile | |
| ENST00000693454.1:n.555T>A | ||
| ENST00000693602.1:n.1438T>A | ||
| ENST00000358951.7:c.1345T>A MANE Select | ENSP00000351832.2:p.Phe449Ile | |
| ENST00000358951.6:c.1345T>A | ENSP00000351832.2:p.Phe449Ile | |
| ENST00000478976.1:n.292-785T>A | ||
| NM_012414.3:c.1345T>A | NP_036546.2:p.Phe449Ile | |
| NM_012414.4:c.1345T>A MANE Select | NP_036546.2:p.Phe449Ile |