Linked Data
ClinVar Variation Id:
30678
dbSNP Id:
rs387906973
gnomAD v2:
2-239757211-C-T
gnomAD v3:
2-238848570-C-T
gnomAD v4:
2-238848570-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238848570C>T , CM000664.2:g.238848570C>T | GRCh38 |
| NC_000002.11:g.239757211C>T , CM000664.1:g.239757211C>T | GRCh37 |
| NG_032754.1:g.5539C>T | |
| NG_032754.2:g.5539C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710607.1:c.355C>T | ENSP00000518373.1:p.Gln119Ter | |
| ENST00000612363.2:c.355C>T MANE Select | ENSP00000482581.1:p.Gln119Ter | |
| ENST00000448943.2:c.355C>T | ENSP00000405176.2:p.Gln119Ter | |
| ENST00000612363.1:c.355C>T | ENSP00000482581.1:p.Gln119Ter | |
| NM_001271893.3:c.355C>T | NP_001258822.1:p.Gln119Ter | |
| NM_057179.2:c.355C>T | NP_476527.1:p.Gln119Ter | |
| XM_006712242.2:c.355C>T | XP_006712305.1:p.Gln119Ter | |
| NM_001271893.4:c.355C>T MANE Select | NP_001258822.1:p.Gln119Ter | |
| NM_057179.3:c.355C>T | NP_476527.1:p.Gln119Ter |