Linked Data
dbSNP Id:
rs1567192162
gnomAD v2:
15-89872012-C-A
MyVariant Identifiers:
chr15:g.89872012C>A (hg19)
chr15:g.89872012_89872013delinsAT (hg19)
chr15:g.89328781C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328781C>A , CM000677.2:g.89328781C>A | GRCh38 |
| NC_000015.9:g.89872012C>A , CM000677.1:g.89872012C>A | GRCh37 |
| NC_000015.8:g.87673016C>A | NCBI36 |
| NG_008218.1:g.11015G>T | |
| NG_008218.2:g.11015G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1074G>T | ENSP00000516154.1:p.Glu358Asp | |
| ENST00000268124.11:c.1074G>T MANE Select | ENSP00000268124.5:p.Glu358Asp | |
| ENST00000530292.3:c.675G>T | ENSP00000432885.2:p.Glu225Asp | |
| ENST00000635986.2:c.1074G>T | ENSP00000490653.2:p.Glu358Asp | |
| ENST00000636774.1:c.1074G>T | ENSP00000489799.1:p.Glu358Asp | |
| ENST00000637264.1:c.146G>T | ||
| ENST00000666746.1:c.731G>T | ||
| ENST00000672071.1:n.1272G>T | ||
| ENST00000672923.2:n.71G>T | ||
| ENST00000268124.9:c.1074G>T | ENSP00000268124.5:p.Glu358Asp | |
| ENST00000442287.6:c.1074G>T | ENSP00000399851.2:p.Glu358Asp | |
| ENST00000631044.2:c.*457G>T | ENSP00000486730.1:n.*457G>T | |
| NM_001126131.1:c.1074G>T | NP_001119603.1:p.Glu358Asp | |
| NM_002693.2:c.1074G>T | NP_002684.1:p.Glu358Asp | |
| NM_001126131.2:c.1074G>T | NP_001119603.1:p.Glu358Asp | |
| NM_002693.3:c.1074G>T MANE Select | NP_002684.1:p.Glu358Asp |