Linked Data
ClinVar Variation Id:
143160
dbSNP Id:
rs527236133
gnomAD v2:
5-89988476-C-T
gnomAD v4:
5-90692659-C-T
COSMIC:
COSM3140672
PubMed:
PMID:26338283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90692659C>T , CM000667.2:g.90692659C>T | GRCh38 |
| NC_000005.9:g.89988476C>T , CM000667.1:g.89988476C>T | GRCh37 |
| NC_000005.8:g.90024232C>T | NCBI36 |
| NG_007083.1:g.138860C>T | |
| NG_007083.2:g.168316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.7006C>T MANE Select | ENSP00000384582.2:p.Arg2336Ter | |
| ENST00000639431.1:c.265+16450C>T | ENSP00000491057.1:n.265+16450C>T | |
| ENST00000639473.1:n.2465C>T | ||
| ENST00000640012.1:c.813C>T | ||
| ENST00000640374.1:n.150C>T | ||
| ENST00000640403.1:c.4297C>T | ENSP00000492531.1:p.Arg1433Ter | |
| ENST00000640779.1:c.1735C>T | ||
| ENST00000405460.6:c.7006C>T | ENSP00000384582.2:p.Arg2336Ter | |
| NM_032119.3:c.7006C>T | NP_115495.3:p.Arg2336Ter | |
| NR_003149.1:n.7019C>T | ||
| XM_011543675.1:c.7003C>T | XP_011541977.1:p.Arg2335Ter | |
| XM_011543676.1:c.6925C>T | XP_011541978.1:p.Arg2309Ter | |
| XM_011543677.1:c.4309C>T | XP_011541979.1:p.Arg1437Ter | |
| XM_011543678.1:c.7006C>T | XP_011541980.1:p.Arg2336Ter | |
| XM_011543679.1:c.7006C>T | XP_011541981.1:p.Arg2336Ter | |
| NM_032119.4:c.7006C>T MANE Select | NP_115495.3:p.Arg2336Ter | |
| XM_017009963.2:c.7006C>T | XP_016865452.1:p.Arg2336Ter | |
| XM_017009964.2:c.7003C>T | XP_016865453.1:p.Arg2335Ter | |
| XM_017009965.1:c.7003C>T | XP_016865454.1:p.Arg2335Ter | |
| XM_017009966.2:c.6925C>T | XP_016865455.1:p.Arg2309Ter | |
| XM_017009967.1:c.6910C>T | XP_016865456.1:p.Arg2304Ter | |
| XM_017009968.2:c.7006C>T | XP_016865457.1:p.Arg2336Ter | |
| XM_017009969.2:c.7006C>T | XP_016865458.1:p.Arg2336Ter | |
| XM_017009970.2:c.7006C>T | XP_016865459.1:p.Arg2336Ter | |
| XM_017009971.2:c.7006C>T | XP_016865460.1:p.Arg2336Ter | |
| XM_017009972.1:c.124C>T | XP_016865461.1:p.Arg42Ter | |
| XM_017009973.1:c.124C>T | XP_016865462.1:p.Arg42Ter | |
| XM_017009974.2:c.7006C>T | XP_016865463.1:p.Arg2336Ter | |
| NR_003149.2:n.7022C>T |