Linked Data
ClinVar Variation Id:
95412
dbSNP Id:
rs144538918
ExAC:
1:43396396 G / A
gnomAD v2:
1-43396396-G-A
gnomAD v3:
1-42930725-G-A
gnomAD v4:
1-42930725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930725G>A , CM000663.2:g.42930725G>A | GRCh38 |
| NC_000001.10:g.43396396G>A , CM000663.1:g.43396396G>A | GRCh37 |
| NC_000001.9:g.43168983G>A | NCBI36 |
| NG_008232.1:g.33452C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.417C>T MANE Select | ENSP00000416293.2:p.Phe139= | |
| ENST00000674765.1:c.417C>T | ENSP00000501811.1:p.Phe139= | |
| ENST00000675112.1:n.440C>T | ||
| ENST00000676254.1:n.866C>T | ||
| ENST00000372500.4:c.321C>T | ENSP00000361578.4:p.Phe107= | |
| ENST00000426263.7:c.417C>T | ENSP00000416293.2:p.Phe139= | |
| ENST00000439722.2:c.296C>T | ENSP00000395521.2:n.296C>T | |
| ENST00000475162.3:c.316C>T | ||
| ENST00000625233.2:n.625C>T | ||
| ENST00000630287.2:c.417C>T | ENSP00000486694.1:p.Phe139= | |
| NM_006516.2:c.417C>T | NP_006507.2:p.Phe139= | |
| NM_006516.3:c.417C>T | NP_006507.2:p.Phe139= | |
| NM_006516.4:c.417C>T MANE Select | NP_006507.2:p.Phe139= |