Linked Data
ClinVar Variation Id:
142874
dbSNP Id:
rs587782785
ExAC:
13:32944624 C / T
gnomAD v2:
13-32944624-C-T
gnomAD v3:
13-32370487-C-T
gnomAD v4:
13-32370487-C-T
PubMed:
PMID:25682074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32370487C>T , CM000675.2:g.32370487C>T | GRCh38 |
| NC_000013.10:g.32944624C>T , CM000675.1:g.32944624C>T | GRCh37 |
| NC_000013.9:g.31842624C>T | NCBI36 |
| NG_012772.3:g.60008C>T , LRG_293:g.60008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8417C>T | ENSP00000434898.2:p.Ser2806Leu | |
| ENST00000528762.2:c.8417C>T | ENSP00000433168.2:p.Ser2806Leu | |
| ENST00000530893.7:c.8048C>T | ENSP00000499438.2:p.Ser2683Leu | |
| ENST00000665585.2:c.8417C>T | ENSP00000499570.2:p.Ser2806Leu | |
| ENST00000666593.2:c.8417C>T | ENSP00000499256.2:p.Ser2806Leu | |
| ENST00000700202.2:c.8417C>T | ENSP00000514856.2:p.Ser2806Leu | |
| ENST00000700202.1:c.884C>T | ENSP00000514856.1:p.Ser295Leu | |
| ENST00000380152.8:c.8417C>T MANE Select | ENSP00000369497.3:p.Ser2806Leu | |
| ENST00000544455.6:c.8417C>T | ENSP00000439902.1:p.Ser2806Leu | |
| ENST00000614259.2:c.8425C>T | ENSP00000506251.1:n.8425C>T | |
| ENST00000665585.1:c.982C>T | ||
| ENST00000680887.1:c.8417C>T | ENSP00000505508.1:p.Ser2806Leu | |
| ENST00000380152.7:c.8417C>T | ENSP00000369497.3:p.Ser2806Leu | |
| ENST00000544455.5:c.8417C>T | ENSP00000439902.1:p.Ser2806Leu | |
| NM_000059.3:c.8417C>T , LRG_293t1:c.8417C>T | NP_000050.2:p.Ser2806Leu | |
| XM_011535203.1:c.8417C>T | XP_011533505.1:p.Ser2806Leu | |
| XM_011535204.1:c.8321C>T | XP_011533506.1:p.Ser2774Leu | |
| XM_011535205.1:c.8417C>T | XP_011533507.1:p.Ser2806Leu | |
| NM_000059.4:c.8417C>T MANE Select | NP_000050.3:p.Ser2806Leu |