Linked Data
ClinVar Variation Id:
441298
dbSNP Id:
rs1555286874
gnomAD v3:
13-32362687-A-C
gnomAD v4:
13-32362687-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32362687A>C , CM000675.2:g.32362687A>C | GRCh38 |
| NC_000013.10:g.32936824A>C , CM000675.1:g.32936824A>C | GRCh37 |
| NC_000013.9:g.31834824A>C | NCBI36 |
| NG_012772.3:g.52208A>C , LRG_293:g.52208A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7970A>C | ENSP00000434898.2:p.Lys2657Thr | |
| ENST00000528762.2:c.7970A>C | ENSP00000433168.2:p.Lys2657Thr | |
| ENST00000530893.7:c.7601A>C | ENSP00000499438.2:p.Lys2534Thr | |
| ENST00000665585.2:c.7970A>C | ENSP00000499570.2:p.Lys2657Thr | |
| ENST00000666593.2:c.7970A>C | ENSP00000499256.2:p.Lys2657Thr | |
| ENST00000700202.2:c.7970A>C | ENSP00000514856.2:p.Lys2657Thr | |
| ENST00000700202.1:c.437A>C | ENSP00000514856.1:p.Lys146Thr | |
| ENST00000380152.8:c.7970A>C MANE Select | ENSP00000369497.3:p.Lys2657Thr | |
| ENST00000544455.6:c.7970A>C | ENSP00000439902.1:p.Lys2657Thr | |
| ENST00000614259.2:c.7978A>C | ENSP00000506251.1:n.7978A>C | |
| ENST00000665585.1:c.535A>C | ||
| ENST00000680887.1:c.7970A>C | ENSP00000505508.1:p.Lys2657Thr | |
| ENST00000380152.7:c.7970A>C | ENSP00000369497.3:p.Lys2657Thr | |
| ENST00000544455.5:c.7970A>C | ENSP00000439902.1:p.Lys2657Thr | |
| NM_000059.3:c.7970A>C , LRG_293t1:c.7970A>C | NP_000050.2:p.Lys2657Thr | |
| XM_011535203.1:c.7970A>C | XP_011533505.1:p.Lys2657Thr | |
| XM_011535204.1:c.7874A>C | XP_011533506.1:p.Lys2625Thr | |
| XM_011535205.1:c.7970A>C | XP_011533507.1:p.Lys2657Thr | |
| NM_000059.4:c.7970A>C MANE Select | NP_000050.3:p.Lys2657Thr |