Linked Data
ClinVar Variation Id:
39
dbSNP Id:
rs267606793
ExAC:
2:62063210 G / A
gnomAD v2:
2-62063210-G-A
gnomAD v3:
2-61836075-G-A
gnomAD v4:
2-61836075-G-A
PubMed:
PMID:20705279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61836075G>A , CM000664.2:g.61836075G>A | GRCh38 |
| NC_000002.11:g.62063210G>A , CM000664.1:g.62063210G>A | GRCh37 |
| NC_000002.10:g.61916714G>A | NCBI36 |
| NG_028125.1:g.23069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1786C>T MANE Select | ENSP00000385158.1:p.Arg596Ter | |
| ENST00000307507.3:c.*1628C>T | ENSP00000303170.3:n.*1628C>T | |
| ENST00000404929.5:c.1786C>T | ENSP00000385158.1:p.Arg596Ter | |
| ENST00000405894.3:c.1618C>T | ENSP00000385893.3:p.Arg540Ter | |
| ENST00000418113.5:c.2063C>T | ||
| ENST00000456262.5:c.*1133C>T | ENSP00000396105.1:n.*1133C>T | |
| ENST00000478494.1:n.410C>T | ||
| ENST00000496369.1:n.139C>T | ||
| NM_001201543.1:c.1786C>T | NP_001188472.1:p.Arg596Ter | |
| NM_032180.2:c.1618C>T | NP_115556.2:p.Arg540Ter | |
| NR_037710.1:n.1664C>T | ||
| XR_939724.1:n.3147C>T | ||
| XM_017005072.1:c.1291C>T | XP_016860561.1:p.Arg431Ter | |
| XM_017005073.1:c.1216C>T | XP_016860562.1:p.Arg406Ter | |
| XM_017005074.1:c.1048C>T | XP_016860563.1:p.Arg350Ter | |
| XR_001738972.2:n.1787C>T | ||
| XR_001738973.2:n.1619C>T | ||
| XR_001738974.2:n.1787C>T | ||
| XR_001738975.2:n.2380C>T | ||
| XR_001738976.1:n.1815C>T | ||
| XR_001738977.1:n.1647C>T | ||
| NM_001201543.2:c.1786C>T MANE Select | NP_001188472.1:p.Arg596Ter | |
| NM_032180.3:c.1618C>T | NP_115556.2:p.Arg540Ter | |
| NR_037710.2:n.1581C>T |