Linked Data
ClinVar Variation Id:
97033
dbSNP Id:
rs587777087
gnomAD v2:
2-27676295-G-A
gnomAD v4:
2-27453428-G-A
COSMIC:
COSM4093586
PubMed:
PMID:24140113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27453428G>A , CM000664.2:g.27453428G>A | GRCh38 |
| NC_000002.11:g.27676295G>A , CM000664.1:g.27676295G>A | GRCh37 |
| NC_000002.10:g.27529799G>A | NCBI36 |
| NG_034068.1:g.41384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.3907C>T MANE Select | ENSP00000260570.3:p.Arg1303Ter | |
| ENST00000674701.1:c.*3420C>T | ENSP00000502275.1:n.*3420C>T | |
| ENST00000674824.1:c.*2355C>T | ENSP00000501824.1:n.*2355C>T | |
| ENST00000674932.1:c.*4353C>T | ENSP00000501967.1:n.*4353C>T | |
| ENST00000675410.1:c.*1778C>T | ENSP00000502030.1:n.*1778C>T | |
| ENST00000675690.1:c.3841C>T | ENSP00000502283.1:p.Arg1281Ter | |
| ENST00000676119.1:c.*3197C>T | ENSP00000501701.1:n.*3197C>T | |
| ENST00000260570.7:c.3907C>T | ENSP00000260570.3:p.Arg1303Ter | |
| ENST00000443889.1:c.512C>T | ||
| ENST00000450564.1:c.239C>T | ENSP00000399017.1:p.Ala80Val | |
| ENST00000475909.1:n.225C>T | ||
| ENST00000507184.5:n.4188C>T | ||
| ENST00000509128.5:c.302C>T | ||
| NM_015662.2:c.3907C>T | NP_056477.1:p.Arg1303Ter | |
| XM_005264254.1:c.3841C>T | XP_005264311.1:p.Arg1281Ter | |
| XM_006711986.2:c.3844C>T | XP_006712049.1:p.Arg1282Ter | |
| XM_006711987.1:c.3907C>T | XP_006712050.1:p.Arg1303Ter | |
| XM_011532757.1:c.3226C>T | XP_011531059.1:p.Arg1076Ter | |
| XM_011532758.1:c.3907C>T | XP_011531060.1:p.Arg1303Ter | |
| XM_011532759.1:c.2347C>T | XP_011531061.1:p.Arg783Ter | |
| XM_011532760.1:c.1972C>T | XP_011531062.1:p.Arg658Ter | |
| XM_006711986.3:c.3844C>T | XP_006712049.1:p.Arg1282Ter | |
| XM_011532757.2:c.3226C>T | XP_011531059.1:p.Arg1076Ter | |
| XM_011532759.2:c.2347C>T | XP_011531061.1:p.Arg783Ter | |
| XM_011532760.2:c.1972C>T | XP_011531062.1:p.Arg658Ter | |
| XM_017003790.1:c.3778C>T | XP_016859279.1:p.Arg1260Ter | |
| XM_017003791.1:c.3226C>T | XP_016859280.1:p.Arg1076Ter | |
| XM_017003792.1:c.3797C>T | XP_016859281.1:p.Ala1266Val | |
| XM_017003793.1:c.2044C>T | XP_016859282.1:p.Arg682Ter | |
| XM_017003794.1:c.2044C>T | XP_016859283.1:p.Arg682Ter | |
| XM_017003795.1:c.1840C>T | XP_016859284.1:p.Arg614Ter | |
| XR_001738698.1:n.3852C>T | ||
| NM_015662.3:c.3907C>T MANE Select | NP_056477.1:p.Arg1303Ter |