Linked Data
ClinVar Variation Id:
136570
dbSNP Id:
rs587780872
ExAC:
13:32944533 G / T
gnomAD v2:
13-32944533-G-T
gnomAD v4:
13-32370396-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32370396G>T , CM000675.2:g.32370396G>T | GRCh38 |
| NC_000013.10:g.32944533G>T , CM000675.1:g.32944533G>T | GRCh37 |
| NC_000013.9:g.31842533G>T | NCBI36 |
| NG_012772.3:g.59917G>T , LRG_293:g.59917G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.8332-6G>T | ENSP00000434898.2:n.8332-6G>T | |
| ENST00000528762.2:c.8332-6G>T | ENSP00000433168.2:n.8332-6G>T | |
| ENST00000530893.7:c.7963-6G>T | ENSP00000499438.2:n.7963-6G>T | |
| ENST00000665585.2:c.8332-6G>T | ENSP00000499570.2:n.8332-6G>T | |
| ENST00000666593.2:c.8332-6G>T | ENSP00000499256.2:n.8332-6G>T | |
| ENST00000700202.2:c.8332-6G>T | ENSP00000514856.2:n.8332-6G>T | |
| ENST00000700202.1:c.799-6G>T | ENSP00000514856.1:n.799-6G>T | |
| ENST00000380152.8:c.8332-6G>T MANE Select | ENSP00000369497.3:n.8332-6G>T | |
| ENST00000544455.6:c.8332-6G>T | ENSP00000439902.1:n.8332-6G>T | |
| ENST00000614259.2:c.8340-6G>T | ENSP00000506251.1:n.8340-6G>T | |
| ENST00000665585.1:c.897-6G>T | ||
| ENST00000680887.1:c.8332-6G>T | ENSP00000505508.1:n.8332-6G>T | |
| ENST00000380152.7:c.8332-6G>T | ENSP00000369497.3:n.8332-6G>T | |
| ENST00000544455.5:c.8332-6G>T | ENSP00000439902.1:n.8332-6G>T | |
| NM_000059.3:c.8332-6G>T , LRG_293t1:c.8332-6G>T | NP_000050.2:n.8332-6G>T | |
| XM_011535203.1:c.8332-6G>T | XP_011533505.1:n.8332-6G>T | |
| XM_011535204.1:c.8236-6G>T | XP_011533506.1:n.8236-6G>T | |
| XM_011535205.1:c.8332-6G>T | XP_011533507.1:n.8332-6G>T | |
| NM_000059.4:c.8332-6G>T MANE Select | NP_000050.3:n.8332-6G>T |