Linked Data
ClinVar Variation Id:
381848
dbSNP Id:
rs116272698
ExAC:
15:80460421 C / T
gnomAD v2:
15-80460421-C-T
gnomAD v3:
15-80168079-C-T
gnomAD v4:
15-80168079-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168079C>T , CM000677.2:g.80168079C>T | GRCh38 |
| NC_000015.9:g.80460421C>T , CM000677.1:g.80460421C>T | GRCh37 |
| NC_000015.8:g.78247476C>T | NCBI36 |
| NG_012833.1:g.20081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.558C>T | ||
| ENST00000684569.1:n.528C>T | ||
| ENST00000561421.6:c.483C>T MANE Select | ENSP00000453347.2:p.Gly161= | |
| ENST00000646551.1:n.2110C>T | ||
| ENST00000261755.9:c.483C>T | ENSP00000261755.5:p.Gly161= | |
| ENST00000407106.5:c.483C>T | ENSP00000385080.1:p.Gly161= | |
| ENST00000539156.5:c.273C>T | ENSP00000454271.1:p.Gly91= | |
| ENST00000558022.5:c.483C>T | ENSP00000453152.1:p.Gly161= | |
| ENST00000558514.1:n.29C>T | ||
| ENST00000558627.1:n.411C>T | ||
| ENST00000561421.5:c.483C>T | ENSP00000453347.1:p.Gly161= | |
| NM_000137.2:c.483C>T | NP_000128.1:p.Gly161= | |
| XM_024449872.1:c.483C>T | XP_024305640.1:p.Gly161= | |
| NM_000137.4:c.483C>T MANE Select | NP_000128.1:p.Gly161= | |
| NM_001374377.1:c.483C>T | NP_001361306.1:p.Gly161= | |
| NM_001374380.1:c.483C>T | NP_001361309.1:p.Gly161= |