Linked Data
ClinVar Variation Id:
200064
dbSNP Id:
rs745680336
ExAC:
15:48744861 C / T
gnomAD v2:
15-48744861-C-T
gnomAD v3:
15-48452664-C-T
gnomAD v4:
15-48452664-C-T
ERepo:
CA015829/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48452664C>T , CM000677.2:g.48452664C>T | GRCh38 |
| NC_000015.9:g.48744861C>T , CM000677.1:g.48744861C>T | GRCh37 |
| NC_000015.8:g.46532153C>T | NCBI36 |
| NG_008805.2:g.198125G>A , LRG_778:g.198125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5443G>A | ENSP00000453958.2:p.Gly1815Ser | |
| ENST00000674301.2:c.5443G>A | ENSP00000501333.2:p.Gly1815Ser | |
| ENST00000684448.1:n.4117G>A | ||
| ENST00000316623.10:c.5443G>A MANE Select | ENSP00000325527.5:p.Gly1815Ser | |
| ENST00000674301.1:c.442G>A | ENSP00000501333.1:p.Gly148Ser | |
| ENST00000316623.9:c.5443G>A | ENSP00000325527.5:p.Gly1815Ser | |
| ENST00000537463.6:c.*1206G>A | ENSP00000440294.2:n.*1206G>A | |
| ENST00000559133.5:c.750G>A | ||
| NM_000138.4:c.5443G>A , LRG_778t1:c.5443G>A | NP_000129.3:p.Gly1815Ser | |
| NM_000138.5:c.5443G>A MANE Select | NP_000129.3:p.Gly1815Ser |