Linked Data
ClinVar Variation Id:
13503
ClinVar RCV Id:
RCV000014448
RCV000014447
RCV000020484
RCV000184009
RCV000188641
RCV000194055
RCV000262479
RCV000415105
RCV001004407
RCV001642225
RCV001678594
RCV001813742
RCV001813985
RCV001847602
RCV002272019
RCV002287334
RCV002313708
RCV002319423
RCV003458331
dbSNP Id:
rs113994094
ExAC:
15:89873415 G / A
gnomAD v2:
15-89873415-G-A
gnomAD v3:
15-89330184-G-A
gnomAD v4:
15-89330184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330184G>A , CM000677.2:g.89330184G>A | GRCh38 |
| NC_000015.9:g.89873415G>A , CM000677.1:g.89873415G>A | GRCh37 |
| NC_000015.8:g.87674419G>A | NCBI36 |
| NG_008218.1:g.9612C>T | |
| NG_008218.2:g.9612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.752C>T | ENSP00000516154.1:p.Thr251Ile | |
| ENST00000268124.11:c.752C>T MANE Select | ENSP00000268124.5:p.Thr251Ile | |
| ENST00000530292.3:c.353C>T | ENSP00000432885.2:p.Thr118Ile | |
| ENST00000635986.2:c.752C>T | ENSP00000490653.2:p.Thr251Ile | |
| ENST00000636774.1:c.752C>T | ENSP00000489799.1:p.Thr251Ile | |
| ENST00000666746.1:c.409C>T | ||
| ENST00000672071.1:n.950C>T | ||
| ENST00000268124.9:c.752C>T | ENSP00000268124.5:p.Thr251Ile | |
| ENST00000442287.6:c.752C>T | ENSP00000399851.2:p.Thr251Ile | |
| ENST00000631044.2:c.*135C>T | ENSP00000486730.1:n.*135C>T | |
| NM_001126131.1:c.752C>T | NP_001119603.1:p.Thr251Ile | |
| NM_002693.2:c.752C>T | NP_002684.1:p.Thr251Ile | |
| NM_001126131.2:c.752C>T | NP_001119603.1:p.Thr251Ile | |
| NM_002693.3:c.752C>T MANE Select | NP_002684.1:p.Thr251Ile |