Linked Data
ClinVar Variation Id:
747483
ClinVar RCV Id:
RCV000924196
dbSNP Id:
rs201453174
ExAC:
14:73685904 C / T
gnomAD:
14:73685904 C / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73219196C>T , CM000676.2:g.73219196C>T | GRCh38 |
| NC_000014.8:g.73685904C>T , CM000676.1:g.73685904C>T | GRCh37 |
| NC_000014.7:g.72755657C>T | NCBI36 |
| NG_007386.2:g.87726C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324501.10:c.1311C>T MANE Select | ENSP00000326366.5:p.Ile437= | |
| ENST00000324501.9:c.1311C>T | ENSP00000326366.5:p.Ile437= | |
| ENST00000357710.8:c.1299C>T | ENSP00000350342.4:p.Ile433= | |
| ENST00000394164.5:c.1299C>T | ENSP00000377719.1:p.Ile433= | |
| ENST00000406768.1:c.1035C>T | ENSP00000385948.1:p.Ile345= | |
| ENST00000555386.5:n.1391C>T | ENSP00000450845.1:n.1391C>T | |
| ENST00000555867.1:n.676C>T | ||
| ENST00000557511.5:n.1137C>T | ENSP00000451429.1:p.Ile379= | |
| NM_000021.3:c.1311C>T | NP_000012.1:p.Ile437= | |
| NM_007318.2:c.1299C>T | NP_015557.2:p.Ile433= | |
| XM_005267864.1:c.1311C>T | XP_005267921.1:p.Ile437= | |
| XM_005267866.1:c.1299C>T | XP_005267923.1:p.Ile433= | |
| XM_011536971.1:c.1311C>T | XP_011535273.1:p.Ile437= | |
| XM_011536972.1:c.1311C>T | XP_011535274.1:p.Ile437= | |
| XM_011536973.1:c.1299C>T | XP_011535275.1:p.Ile433= | |
| XM_011536974.1:c.1299C>T | XP_011535276.1:p.Ile433= | |
| XM_005267864.3:c.1311C>T | XP_005267921.1:p.Ile437= | |
| XM_005267866.2:c.1299C>T | XP_005267923.1:p.Ile433= | |
| XM_011536972.2:c.1311C>T | XP_011535274.1:p.Ile437= | |
| XM_011536973.2:c.1299C>T | XP_011535275.1:p.Ile433= | |
| XM_011536974.2:c.1299C>T | XP_011535276.1:p.Ile433= | |
| NM_000021.4:c.1311C>T MANE Select | NP_000012.1:p.Ile437= | |
| NM_007318.3:c.1299C>T | NP_015557.2:p.Ile433= |