Linked Data
ClinVar Variation Id:
1101259
ClinVar RCV Id:
RCV001424113
dbSNP Id:
rs2142086887
MyVariant Identifiers:
chr15:g.80445450C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80153108C>A , CM000677.2:g.80153108C>A | GRCh38 |
| NC_000015.9:g.80445450C>A , CM000677.1:g.80445450C>A | GRCh37 |
| NC_000015.8:g.78232505C>A | NCBI36 |
| NG_012833.1:g.5110C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.54C>A | ENSP00000507680.1:p.Pro18= | |
| ENST00000682012.1:n.129C>A | ||
| ENST00000684363.1:c.54C>A | ENSP00000507314.1:p.Pro18= | |
| ENST00000684569.1:n.99C>A | ||
| ENST00000561421.6:c.54C>A MANE Select | ENSP00000453347.2:p.Pro18= | |
| ENST00000261755.9:c.54C>A | ENSP00000261755.5:p.Pro18= | |
| ENST00000407106.5:c.54C>A | ENSP00000385080.1:p.Pro18= | |
| ENST00000537726.5:n.136C>A | ||
| ENST00000558022.5:c.54C>A | ENSP00000453152.1:p.Pro18= | |
| ENST00000558767.5:n.315C>A | ||
| ENST00000561369.1:n.134C>A | ||
| ENST00000561421.5:c.54C>A | ENSP00000453347.1:p.Pro18= | |
| NM_000137.2:c.54C>A | NP_000128.1:p.Pro18= | |
| XM_024449872.1:c.54C>A | XP_024305640.1:p.Pro18= | |
| NM_000137.4:c.54C>A MANE Select | NP_000128.1:p.Pro18= | |
| NM_001374377.1:c.54C>A | NP_001361306.1:p.Pro18= | |
| NM_001374380.1:c.54C>A | NP_001361309.1:p.Pro18= |