Linked Data
ClinVar Variation Id:
1576850
ClinVar RCV Id:
RCV002078568
dbSNP Id:
rs2142097962
MyVariant Identifiers:
chr15:g.80460457C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168115C>A , CM000677.2:g.80168115C>A | GRCh38 |
| NC_000015.9:g.80460457C>A , CM000677.1:g.80460457C>A | GRCh37 |
| NC_000015.8:g.78247512C>A | NCBI36 |
| NG_012833.1:g.20117C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.594C>A | ||
| ENST00000684569.1:n.564C>A | ||
| ENST00000561421.6:c.519C>A MANE Select | ENSP00000453347.2:p.Ile173= | |
| ENST00000646551.1:n.2146C>A | ||
| ENST00000261755.9:c.519C>A | ENSP00000261755.5:p.Ile173= | |
| ENST00000407106.5:c.519C>A | ENSP00000385080.1:p.Ile173= | |
| ENST00000539156.5:c.309C>A | ENSP00000454271.1:p.Ile103= | |
| ENST00000558514.1:n.65C>A | ||
| ENST00000558627.1:n.447C>A | ||
| ENST00000561421.5:c.519C>A | ENSP00000453347.1:p.Ile173= | |
| NM_000137.2:c.519C>A | NP_000128.1:p.Ile173= | |
| XM_024449872.1:c.519C>A | XP_024305640.1:p.Ile173= | |
| NM_000137.4:c.519C>A MANE Select | NP_000128.1:p.Ile173= | |
| NM_001374377.1:c.519C>A | NP_001361306.1:p.Ile173= | |
| NM_001374380.1:c.519C>A | NP_001361309.1:p.Ile173= |