Linked Data
ClinVar Variation Id:
38
dbSNP Id:
rs202193201
ExAC:
2:62066572 G / A
gnomAD v2:
2-62066572-G-A
gnomAD v3:
2-61839437-G-A
gnomAD v4:
2-61839437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61839437G>A , CM000664.2:g.61839437G>A | GRCh38 |
| NC_000002.11:g.62066572G>A , CM000664.1:g.62066572G>A | GRCh37 |
| NC_000002.10:g.61920076G>A | NCBI36 |
| NG_028125.1:g.19707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1567C>T MANE Select | ENSP00000385158.1:p.Arg523Ter | |
| ENST00000307507.3:c.*1577C>T | ENSP00000303170.3:n.*1577C>T | |
| ENST00000404929.5:c.1567C>T | ENSP00000385158.1:p.Arg523Ter | |
| ENST00000405894.3:c.1567C>T | ENSP00000385893.3:p.Arg523Ter | |
| ENST00000418113.5:c.1554C>T | ||
| ENST00000456262.5:c.*1082C>T | ENSP00000396105.1:n.*1082C>T | |
| ENST00000496369.1:n.88C>T | ||
| NM_001201543.1:c.1567C>T | NP_001188472.1:p.Arg523Ter | |
| NM_032180.2:c.1567C>T | NP_115556.2:p.Arg523Ter | |
| NR_037710.1:n.1613C>T | ||
| XR_939724.1:n.2928C>T | ||
| XM_017005072.1:c.1240C>T | XP_016860561.1:p.Arg414Ter | |
| XM_017005073.1:c.997C>T | XP_016860562.1:p.Arg333Ter | |
| XM_017005074.1:c.997C>T | XP_016860563.1:p.Arg333Ter | |
| XR_001738972.2:n.1568C>T | ||
| XR_001738973.2:n.1568C>T | ||
| XR_001738974.2:n.1568C>T | ||
| XR_001738975.2:n.1568C>T | ||
| XR_001738976.1:n.1596C>T | ||
| XR_001738977.1:n.1596C>T | ||
| NM_001201543.2:c.1567C>T MANE Select | NP_001188472.1:p.Arg523Ter | |
| NM_032180.3:c.1567C>T | NP_115556.2:p.Arg523Ter | |
| NR_037710.2:n.1530C>T |