Linked Data
ClinVar Variation Id:
38207
ClinVar RCV Id:
RCV000031790
RCV000045706
RCV000131038
RCV000413921
RCV000735618
RCV001353572
RCV003162284
RCV003473225
RCV004532464
dbSNP Id:
rs80359159
gnomAD v4:
13-32379872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379872C>T , CM000675.2:g.32379872C>T | GRCh38 |
| NC_000013.10:g.32954009C>T , CM000675.1:g.32954009C>T | GRCh37 |
| NC_000013.9:g.31852009C>T | NCBI36 |
| NG_012772.3:g.69393C>T , LRG_293:g.69393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9076C>T | ENSP00000434898.2:p.Gln3026Ter | |
| ENST00000528762.2:c.*443C>T | ENSP00000433168.2:n.*443C>T | |
| ENST00000530893.7:c.8707C>T | ENSP00000499438.2:p.Gln2903Ter | |
| ENST00000665585.2:c.*638C>T | ENSP00000499570.2:n.*638C>T | |
| ENST00000666593.2:c.9076C>T | ENSP00000499256.2:p.Gln3026Ter | |
| ENST00000700202.2:c.9025C>T | ENSP00000514856.2:p.Gln3009Ter | |
| ENST00000700202.1:c.1492C>T | ENSP00000514856.1:p.Gln498Ter | |
| ENST00000700203.1:n.1203C>T | ||
| ENST00000380152.8:c.9076C>T MANE Select | ENSP00000369497.3:p.Gln3026Ter | |
| ENST00000544455.6:c.9076C>T | ENSP00000439902.1:p.Gln3026Ter | |
| ENST00000614259.2:c.9084C>T | ENSP00000506251.1:n.9084C>T | |
| ENST00000665585.1:c.1954C>T | ||
| ENST00000680887.1:c.9076C>T | ENSP00000505508.1:p.Gln3026Ter | |
| ENST00000380152.7:c.9076C>T | ENSP00000369497.3:p.Gln3026Ter | |
| ENST00000470094.1:c.33C>T | ||
| ENST00000544455.5:c.9076C>T | ENSP00000439902.1:p.Gln3026Ter | |
| NM_000059.3:c.9076C>T , LRG_293t1:c.9076C>T | NP_000050.2:p.Gln3026Ter | |
| XM_011535203.1:c.9076C>T | XP_011533505.1:p.Gln3026Ter | |
| XM_011535204.1:c.8980C>T | XP_011533506.1:p.Gln2994Ter | |
| NM_000059.4:c.9076C>T MANE Select | NP_000050.3:p.Gln3026Ter |