Linked Data
ClinVar Variation Id:
2099082
ClinVar RCV Id:
RCV003021539
MyVariant Identifiers:
chr5:g.60200650A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60904823A>T , CM000667.2:g.60904823A>T | GRCh38 |
| NC_000005.9:g.60200650A>T , CM000667.1:g.60200650A>T | GRCh37 |
| NC_000005.8:g.60236407A>T | NCBI36 |
| NG_009289.1:g.45256T>A , LRG_466:g.45256T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439176.6:c.450T>A | ENSP00000408344.2:p.Ser150= | |
| ENST00000647431.2:c.551T>A | ENSP00000494726.2:n.551T>A | |
| ENST00000647486.2:c.450T>A | ENSP00000494466.2:p.Ser150= | |
| ENST00000675042.2:c.276T>A | ENSP00000502082.2:p.Ser92= | |
| ENST00000675452.2:c.*415T>A | ENSP00000506954.1:n.*415T>A | |
| ENST00000682217.1:c.450T>A | ENSP00000507570.1:p.Ser150= | |
| ENST00000682246.1:n.506T>A | ||
| ENST00000682375.1:c.*280T>A | ENSP00000507551.1:n.*280T>A | |
| ENST00000683052.1:c.252T>A | ENSP00000507072.1:p.Ser84= | |
| ENST00000683199.1:n.472T>A | ||
| ENST00000683216.1:n.715T>A | ||
| ENST00000683460.1:c.*280T>A | ENSP00000507820.1:n.*280T>A | |
| ENST00000684394.1:n.505T>A | ||
| ENST00000684453.1:n.500T>A | ||
| ENST00000684621.1:n.506T>A | ||
| ENST00000265038.10:c.450T>A | ENSP00000265038.6:p.Ser150= | |
| ENST00000497892.6:c.*248T>A | ENSP00000501805.1:n.*248T>A | |
| ENST00000643034.1:c.*342T>A | ENSP00000496080.1:n.*342T>A | |
| ENST00000643708.1:c.*280T>A | ENSP00000494199.1:n.*280T>A | |
| ENST00000647431.1:c.502T>A | ||
| ENST00000647486.1:c.401T>A | ||
| ENST00000675042.1:c.276T>A | ENSP00000502082.1:p.Ser92= | |
| ENST00000675229.1:c.450T>A | ENSP00000502154.1:p.Ser150= | |
| ENST00000675378.1:c.450T>A | ENSP00000502535.1:p.Ser150= | |
| ENST00000675452.1:n.699T>A | ||
| ENST00000675920.1:n.1058T>A | ||
| ENST00000676185.1:c.450T>A MANE Select | ENSP00000501614.1:p.Ser150= | |
| ENST00000265038.9:c.450T>A | ENSP00000265038.5:p.Ser150= | |
| ENST00000381118.7:c.*494T>A | ENSP00000370510.3:n.*494T>A | |
| ENST00000439176.5:c.276T>A | ENSP00000408344.1:p.Ser92= | |
| ENST00000462279.5:n.295T>A | ||
| ENST00000484330.5:n.227-2315T>A | ||
| ENST00000495985.5:n.223T>A | ||
| ENST00000497892.5:n.493T>A | ||
| NM_000082.3:c.450T>A , LRG_466t1:c.450T>A | NP_000073.1:p.Ser150= | |
| NM_001007233.2:c.276T>A | NP_001007234.1:p.Ser92= | |
| NM_001007234.2:c.450T>A | NP_001007235.1:p.Ser150= | |
| NM_001290285.1:c.23-1107T>A | NP_001277214.1:n.23-1107T>A | |
| NM_001007234.3:c.450T>A | NP_001007235.1:p.Ser150= | |
| NM_000082.4:c.450T>A MANE Select | NP_000073.1:p.Ser150= | |
| NM_001007233.3:c.276T>A | NP_001007234.1:p.Ser92= | |
| NM_001290285.2:c.23-1107T>A | NP_001277214.1:n.23-1107T>A |