Linked Data
ClinVar Variation Id:
1045912
ClinVar RCV Id:
RCV001350396
dbSNP Id:
rs779113206
ExAC:
2:71351338 C / T
gnomAD v2:
2-71351338-C-T
gnomAD v4:
2-71124208-C-T
COSMIC:
COSM1022588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124208C>T , CM000664.2:g.71124208C>T | GRCh38 |
| NC_000002.11:g.71351338C>T , CM000664.1:g.71351338C>T | GRCh37 |
| NC_000002.10:g.71204846C>T | NCBI36 |
| NG_008977.1:g.11057G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.376G>A MANE Select | ENSP00000244217.5:p.Glu126Lys | |
| ENST00000244217.5:c.376G>A | ENSP00000244217.5:p.Glu126Lys | |
| ENST00000413592.5:c.84+160G>A | ENSP00000391140.1:n.84+160G>A | |
| ENST00000486135.1:c.91G>A | ENSP00000441569.1:p.Glu31Lys | |
| ENST00000494660.6:c.91G>A | ENSP00000437361.1:p.Glu31Lys | |
| NM_032601.3:c.376G>A | NP_115990.3:p.Glu126Lys | |
| XM_005264613.2:c.216+160G>A | XP_005264670.1:n.216+160G>A | |
| XR_939729.1:n.445G>A | ||
| XR_939729.2:n.445G>A | ||
| NM_032601.4:c.376G>A MANE Select | NP_115990.3:p.Glu126Lys |