Linked Data
ClinVar Variation Id:
51249
ClinVar RCV Id:
RCV000077272
RCV000120312
RCV000131496
RCV000148430
RCV000679159
RCV001083754
RCV001353536
dbSNP Id:
rs55816687
ExAC:
13:32910630 A / T
gnomAD v2:
13-32910630-A-T
gnomAD v3:
13-32336493-A-T
gnomAD v4:
13-32336493-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32336493A>T , CM000675.2:g.32336493A>T | GRCh38 |
| NC_000013.10:g.32910630A>T , CM000675.1:g.32910630A>T | GRCh37 |
| NC_000013.9:g.31808630A>T | NCBI36 |
| NG_012772.3:g.26014A>T , LRG_293:g.26014A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.2138A>T | ENSP00000434898.2:p.Gln713Leu | |
| ENST00000528762.2:c.2138A>T | ENSP00000433168.2:p.Gln713Leu | |
| ENST00000530893.7:c.1769A>T | ENSP00000499438.2:p.Gln590Leu | |
| ENST00000665585.2:c.2138A>T | ENSP00000499570.2:p.Gln713Leu | |
| ENST00000666593.2:c.2138A>T | ENSP00000499256.2:p.Gln713Leu | |
| ENST00000700202.2:c.2138A>T | ENSP00000514856.2:p.Gln713Leu | |
| ENST00000380152.8:c.2138A>T MANE Select | ENSP00000369497.3:p.Gln713Leu | |
| ENST00000544455.6:c.2138A>T | ENSP00000439902.1:p.Gln713Leu | |
| ENST00000614259.2:c.2138A>T | ENSP00000506251.1:p.Gln713Leu | |
| ENST00000680887.1:c.2138A>T | ENSP00000505508.1:p.Gln713Leu | |
| ENST00000380152.7:c.2138A>T | ENSP00000369497.3:p.Gln713Leu | |
| ENST00000544455.5:c.2138A>T | ENSP00000439902.1:p.Gln713Leu | |
| ENST00000614259.1:n.2138A>T | ||
| NM_000059.3:c.2138A>T , LRG_293t1:c.2138A>T | NP_000050.2:p.Gln713Leu | |
| XM_011535203.1:c.2138A>T | XP_011533505.1:p.Gln713Leu | |
| XM_011535204.1:c.2138A>T | XP_011533506.1:p.Gln713Leu | |
| XM_011535205.1:c.2138A>T | XP_011533507.1:p.Gln713Leu | |
| NM_000059.4:c.2138A>T MANE Select | NP_000050.3:p.Gln713Leu |