Linked Data
ClinVar Variation Id:
2810
ClinVar RCV Id:
RCV000002944
dbSNP Id:
rs120074157
gnomAD v4:
4-78496859-C-T
PubMed:
PMID:12766769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78496859C>T , CM000666.2:g.78496859C>T | GRCh38 |
| NC_000004.11:g.79418013C>T , CM000666.1:g.79418013C>T | GRCh37 |
| NC_000004.10:g.79637037C>T | NCBI36 |
| NG_015812.1:g.444290C>T | |
| NG_015812.2:g.444290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.9013C>T | ENSP00000508201.1:p.Gln3005Ter | |
| ENST00000512123.4:c.9013C>T MANE Select | ENSP00000422834.2:p.Gln3005Ter | |
| ENST00000512123.3:c.9013C>T | ENSP00000422834.2:p.Gln3005Ter | |
| NM_025074.6:c.9013C>T | NP_079350.5:p.Gln3005Ter | |
| XM_006714314.1:c.9007C>T | XP_006714377.1:p.Gln3003Ter | |
| XM_006714316.1:c.8785C>T | XP_006714379.1:p.Gln2929Ter | |
| XM_011532270.1:c.6712C>T | XP_011530572.1:p.Gln2238Ter | |
| XM_011532271.1:c.3901C>T | XP_011530573.1:p.Gln1301Ter | |
| XM_006714316.3:c.8785C>T | XP_006714379.1:p.Gln2929Ter | |
| NM_025074.7:c.9013C>T MANE Select | NP_079350.5:p.Gln3005Ter |