Linked Data
ClinVar Variation Id:
2809
ClinVar RCV Id:
RCV000002943
dbSNP Id:
rs120074156
gnomAD v4:
4-78481962-C-T
PubMed:
PMID:12766769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78481962C>T , CM000666.2:g.78481962C>T | GRCh38 |
| NC_000004.11:g.79403116C>T , CM000666.1:g.79403116C>T | GRCh37 |
| NC_000004.10:g.79622140C>T | NCBI36 |
| NG_015812.1:g.429393C>T | |
| NG_015812.2:g.429393C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682513.1:c.8602C>T | ENSP00000508201.1:p.Gln2868Ter | |
| ENST00000512123.4:c.8602C>T MANE Select | ENSP00000422834.2:p.Gln2868Ter | |
| ENST00000512123.3:c.8602C>T | ENSP00000422834.2:p.Gln2868Ter | |
| NM_025074.6:c.8602C>T | NP_079350.5:p.Gln2868Ter | |
| XM_006714314.1:c.8596C>T | XP_006714377.1:p.Gln2866Ter | |
| XM_006714316.1:c.8374C>T | XP_006714379.1:p.Gln2792Ter | |
| XM_011532270.1:c.6301C>T | XP_011530572.1:p.Gln2101Ter | |
| XM_011532271.1:c.3490C>T | XP_011530573.1:p.Gln1164Ter | |
| XM_006714316.3:c.8374C>T | XP_006714379.1:p.Gln2792Ter | |
| NM_025074.7:c.8602C>T MANE Select | NP_079350.5:p.Gln2868Ter |