Linked Data
ClinVar Variation Id:
11917
dbSNP Id:
rs121965025
ExAC:
4:998080 C / T
gnomAD v2:
4-998080-C-T
gnomAD v3:
4-1004292-C-T
gnomAD v4:
4-1004292-C-T
PubMed:
PMID:7951228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1004292C>T , CM000666.2:g.1004292C>T | GRCh38 |
| NC_000004.11:g.998080C>T , CM000666.1:g.998080C>T | GRCh37 |
| NC_000004.10:g.988080C>T | NCBI36 |
| NG_008103.1:g.22296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1861C>T | ENSP00000247933.4:p.Arg621Ter | |
| ENST00000514224.2:c.1861C>T MANE Select | ENSP00000425081.2:p.Arg621Ter | |
| ENST00000652070.1:n.1917C>T | ||
| ENST00000247933.8:c.1861C>T | ENSP00000247933.4:p.Arg621Ter | |
| ENST00000514224.1:c.1465C>T | ENSP00000425081.1:p.Arg489Ter | |
| ENST00000514698.5:n.1972C>T | ||
| NM_000203.4:c.1861C>T | NP_000194.2:p.Arg621Ter | |
| NR_110313.1:n.1953C>T | ||
| XM_006713882.2:c.1465C>T | XP_006713945.1:p.Arg489Ter | |
| XM_011513459.1:c.1927C>T | XP_011511761.1:p.Arg643Ter | |
| XM_011513460.1:c.1720C>T | XP_011511762.1:p.Arg574Ter | |
| XM_011513461.1:c.1654C>T | XP_011511763.1:p.Arg552Ter | |
| XM_011513462.1:c.1573C>T | XP_011511764.1:p.Arg525Ter | |
| XM_011513463.1:c.1573C>T | XP_011511765.1:p.Arg525Ter | |
| XR_924947.1:n.2121C>T | ||
| NM_000203.5:c.1861C>T MANE Select | NP_000194.2:p.Arg621Ter | |
| NM_001363576.1:c.1465C>T | NP_001350505.1:p.Arg489Ter | |
| XM_011513461.2:c.1654C>T | XP_011511763.1:p.Arg552Ter | |
| XM_017008163.1:c.901C>T | XP_016863652.1:p.Arg301Ter |