Linked Data
ClinVar Variation Id:
317215
dbSNP Id:
rs73481171
ExAC:
15:80467375 G / A
gnomAD v2:
15-80467375-G-A
gnomAD v3:
15-80175033-G-A
gnomAD v4:
15-80175033-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80175033G>A , CM000677.2:g.80175033G>A | GRCh38 |
| NC_000015.9:g.80467375G>A , CM000677.1:g.80467375G>A | GRCh37 |
| NC_000015.8:g.78254430G>A | NCBI36 |
| NG_012833.1:g.27035G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.944G>A | ||
| ENST00000561421.6:c.855G>A MANE Select | ENSP00000453347.2:p.Pro285= | |
| ENST00000646551.1:n.2469G>A | ||
| ENST00000261755.9:c.855G>A | ENSP00000261755.5:p.Pro285= | |
| ENST00000407106.5:c.855G>A | ENSP00000385080.1:p.Pro285= | |
| ENST00000539156.5:c.645G>A | ENSP00000454271.1:p.Pro215= | |
| ENST00000558627.1:n.783G>A | ||
| ENST00000561421.5:c.855G>A | ENSP00000453347.1:p.Pro285= | |
| NM_000137.2:c.855G>A | NP_000128.1:p.Pro285= | |
| XM_024449872.1:c.855G>A | XP_024305640.1:p.Pro285= | |
| NM_000137.4:c.855G>A MANE Select | NP_000128.1:p.Pro285= | |
| NM_001374377.1:c.855G>A | NP_001361306.1:p.Pro285= | |
| NM_001374380.1:c.855G>A | NP_001361309.1:p.Pro285= |