Linked Data
ClinVar Variation Id:
235316
dbSNP Id:
rs878853009
gnomAD v2:
4-79455625-C-T
gnomAD v3:
4-78534471-C-T
gnomAD v4:
4-78534471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78534471C>T , CM000666.2:g.78534471C>T | GRCh38 |
| NC_000004.11:g.79455625C>T , CM000666.1:g.79455625C>T | GRCh37 |
| NC_000004.10:g.79674649C>T | NCBI36 |
| NG_015812.1:g.481902C>T | |
| NG_015812.2:g.481902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.10948C>T MANE Select | ENSP00000422834.2:p.Gln3650Ter | |
| ENST00000512123.3:c.10948C>T | ENSP00000422834.2:p.Gln3650Ter | |
| NM_025074.6:c.10948C>T | NP_079350.5:p.Gln3650Ter | |
| XM_006714314.1:c.10942C>T | XP_006714377.1:p.Gln3648Ter | |
| XM_006714316.1:c.10720C>T | XP_006714379.1:p.Gln3574Ter | |
| XM_011532270.1:c.8647C>T | XP_011530572.1:p.Gln2883Ter | |
| XM_011532271.1:c.5836C>T | XP_011530573.1:p.Gln1946Ter | |
| XM_006714316.3:c.10720C>T | XP_006714379.1:p.Gln3574Ter | |
| NM_025074.7:c.10948C>T MANE Select | NP_079350.5:p.Gln3650Ter |