Linked Data
ClinVar Variation Id:
441403
dbSNP Id:
rs1205776232
gnomAD v3:
13-32380023-T-C
gnomAD v4:
13-32380023-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380023T>C , CM000675.2:g.32380023T>C | GRCh38 |
| NC_000013.10:g.32954160T>C , CM000675.1:g.32954160T>C | GRCh37 |
| NC_000013.9:g.31852160T>C | NCBI36 |
| NG_012772.3:g.69544T>C , LRG_293:g.69544T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9134T>C | ENSP00000434898.2:p.Leu3045Ser | |
| ENST00000528762.2:c.*501T>C | ENSP00000433168.2:n.*501T>C | |
| ENST00000530893.7:c.8765T>C | ENSP00000499438.2:p.Leu2922Ser | |
| ENST00000665585.2:c.*696T>C | ENSP00000499570.2:n.*696T>C | |
| ENST00000666593.2:c.9134T>C | ENSP00000499256.2:p.Leu3045Ser | |
| ENST00000700202.2:c.9083T>C | ENSP00000514856.2:p.Leu3028Ser | |
| ENST00000700202.1:c.1550T>C | ENSP00000514856.1:p.Leu517Ser | |
| ENST00000700203.1:n.1261T>C | ||
| ENST00000380152.8:c.9134T>C MANE Select | ENSP00000369497.3:p.Leu3045Ser | |
| ENST00000544455.6:c.9134T>C | ENSP00000439902.1:p.Leu3045Ser | |
| ENST00000614259.2:c.9142T>C | ENSP00000506251.1:n.9142T>C | |
| ENST00000665585.1:c.2012T>C | ||
| ENST00000666593.1:c.17T>C | ENSP00000499256.1:p.Leu6Ser | |
| ENST00000680887.1:c.9134T>C | ENSP00000505508.1:p.Leu3045Ser | |
| ENST00000380152.7:c.9134T>C | ENSP00000369497.3:p.Leu3045Ser | |
| ENST00000470094.1:c.91T>C | ||
| ENST00000544455.5:c.9134T>C | ENSP00000439902.1:p.Leu3045Ser | |
| NM_000059.3:c.9134T>C , LRG_293t1:c.9134T>C | NP_000050.2:p.Leu3045Ser | |
| XM_011535203.1:c.9134T>C | XP_011533505.1:p.Leu3045Ser | |
| XM_011535204.1:c.9038T>C | XP_011533506.1:p.Leu3013Ser | |
| NM_000059.4:c.9134T>C MANE Select | NP_000050.3:p.Leu3045Ser |