Linked Data
ClinVar Variation Id:
542014
ClinVar RCV Id:
RCV000652377
dbSNP Id:
rs547408689
ExAC:
8:48739315 C / T
gnomAD v2:
8-48739315-C-T
gnomAD v3:
8-47826754-C-T
gnomAD v4:
8-47826754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47826754C>T , CM000670.2:g.47826754C>T | GRCh38 |
| NC_000008.10:g.48739315C>T , CM000670.1:g.48739315C>T | GRCh37 |
| NC_000008.9:g.48901868C>T | NCBI36 |
| NG_023435.1:g.138430G>A , LRG_162:g.138430G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697603.1:c.1362G>A | ENSP00000513358.1:p.Glu454= | |
| ENST00000314191.7:c.8685G>A MANE Select | ENSP00000313420.3:p.Glu2895= | |
| ENST00000314191.6:c.8685G>A | ENSP00000313420.3:p.Glu2895= | |
| ENST00000338368.7:c.8685G>A | ENSP00000345182.4:p.Glu2895= | |
| NM_001081640.1:c.8685G>A | NP_001075109.1:p.Glu2895= | |
| NM_006904.6:c.8685G>A , LRG_162t1:c.8685G>A | NP_008835.5:p.Glu2895= | |
| XM_011517567.1:c.8688G>A | XP_011515869.1:p.Glu2896= | |
| XM_011517568.1:c.8688G>A | XP_011515870.1:p.Glu2896= | |
| NM_001081640.2:c.8685G>A | NP_001075109.1:p.Glu2895= | |
| NM_006904.7:c.8685G>A MANE Select | NP_008835.5:p.Glu2895= |