Linked Data
ClinVar Variation Id:
1106757
ClinVar RCV Id:
RCV001431611
dbSNP Id:
rs2134021666
gnomAD v4:
11-6394019-T-A
MyVariant Identifiers:
chr11:g.6415249T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394019T>A , CM000673.2:g.6394019T>A | GRCh38 |
| NC_000011.9:g.6415249T>A , CM000673.1:g.6415249T>A | GRCh37 |
| NC_000011.8:g.6371825T>A | NCBI36 |
| NG_011780.1:g.8595T>A | |
| NG_029615.1:g.30396A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1464T>A MANE Select | ENSP00000340409.4:p.Thr488= | |
| ENST00000342245.8:c.1464T>A | ENSP00000340409.4:p.Thr488= | |
| ENST00000526280.1:c.521T>A | ||
| ENST00000527275.5:c.1461T>A | ENSP00000435350.1:p.Thr487= | |
| ENST00000531303.5:c.*295T>A | ENSP00000432625.1:n.*295T>A | |
| ENST00000531336.1:n.296T>A | ||
| ENST00000532367.1:n.300T>A | ||
| ENST00000533123.5:c.*191T>A | ENSP00000435950.1:n.*191T>A | |
| ENST00000534405.5:c.*295T>A | ENSP00000434353.1:n.*295T>A | |
| NM_000543.4:c.1464T>A | NP_000534.3:p.Thr488= | |
| NM_001007593.2:c.1461T>A | NP_001007594.2:p.Thr487= | |
| XM_005253075.3:c.1464T>A | XP_005253132.1:p.Thr488= | |
| XM_011520303.1:c.1332T>A | XP_011518605.1:p.Thr444= | |
| XM_011520304.1:c.1332T>A | XP_011518606.1:p.Thr444= | |
| XR_930886.1:n.1802T>A | ||
| NM_001318087.1:c.1464T>A | NP_001305016.1:p.Thr488= | |
| NM_001318088.1:c.543T>A | NP_001305017.1:p.Thr181= | |
| NM_001365135.1:c.1332T>A | NP_001352064.1:p.Thr444= | |
| NR_027400.2:n.1477T>A | ||
| NR_134502.1:n.996T>A | ||
| XM_011520304.2:c.1332T>A | XP_011518606.1:p.Thr444= | |
| XR_001747940.2:n.1629T>A | ||
| XR_002957158.1:n.1831T>A | ||
| NM_000543.5:c.1464T>A MANE Select | NP_000534.3:p.Thr488= | |
| NM_001007593.3:c.1461T>A | NP_001007594.2:p.Thr487= | |
| NM_001318087.2:c.1464T>A | NP_001305016.1:p.Thr488= | |
| NM_001318088.2:c.543T>A | NP_001305017.1:p.Thr181= | |
| NM_001365135.2:c.1332T>A | NP_001352064.1:p.Thr444= | |
| NR_027400.3:n.1417T>A | ||
| NR_134502.2:n.936T>A |