Linked Data
dbSNP Id:
rs779113206
gnomAD v3:
2-71124208-C-A
gnomAD v4:
2-71124208-C-A
COSMIC:
COSM477611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124208C>A , CM000664.2:g.71124208C>A | GRCh38 |
| NC_000002.11:g.71351338C>A , CM000664.1:g.71351338C>A | GRCh37 |
| NC_000002.10:g.71204846C>A | NCBI36 |
| NG_008977.1:g.11057G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.376G>T MANE Select | ENSP00000244217.5:p.Glu126Ter | |
| ENST00000244217.5:c.376G>T | ENSP00000244217.5:p.Glu126Ter | |
| ENST00000413592.5:c.84+160G>T | ENSP00000391140.1:n.84+160G>T | |
| ENST00000486135.1:c.91G>T | ENSP00000441569.1:p.Glu31Ter | |
| ENST00000494660.6:c.91G>T | ENSP00000437361.1:p.Glu31Ter | |
| NM_032601.3:c.376G>T | NP_115990.3:p.Glu126Ter | |
| XM_005264613.2:c.216+160G>T | XP_005264670.1:n.216+160G>T | |
| XR_939729.1:n.445G>T | ||
| XR_939729.2:n.445G>T | ||
| NM_032601.4:c.376G>T MANE Select | NP_115990.3:p.Glu126Ter |