Linked Data
ClinVar Variation Id:
139105
dbSNP Id:
rs192673935
gnomAD v2:
10-112679406-G-T
gnomAD v3:
10-110919648-G-T
gnomAD v4:
10-110919648-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110919648G>T , CM000672.2:g.110919648G>T | GRCh38 |
| NC_000010.10:g.112679406G>T , CM000672.1:g.112679406G>T | GRCh37 |
| NC_000010.9:g.112669396G>T | NCBI36 |
| NG_028922.1:g.5106G>T , LRG_753:g.5106G>T | |
| NG_041778.1:g.4719C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.-244G>T | ENSP00000265277.5:n.-244G>T | |
| ENST00000451838.2:c.-252G>T | ENSP00000408275.2:n.-252G>T | |
| ENST00000685059.1:c.-295G>T | ENSP00000510210.1:n.-295G>T | |
| ENST00000685613.1:c.-244G>T | ENSP00000510564.1:n.-244G>T | |
| ENST00000687592.1:n.56G>T | ||
| ENST00000688928.1:c.-235+207G>T | ENSP00000509273.1:n.-235+207G>T | |
| ENST00000689118.1:c.-322G>T | ENSP00000510554.1:n.-322G>T | |
| ENST00000689300.1:c.-527G>T | ENSP00000510639.1:n.-527G>T | |
| ENST00000689997.1:c.-390G>T | ENSP00000510700.1:n.-390G>T | |
| ENST00000691151.1:n.49G>T | ||
| ENST00000691369.1:c.-342G>T | ENSP00000509754.1:n.-342G>T | |
| ENST00000691441.1:c.-429G>T | ENSP00000509686.1:n.-429G>T | |
| ENST00000691903.1:c.-244G>T | ENSP00000510314.1:n.-244G>T | |
| ENST00000692776.1:c.-244G>T | ENSP00000508524.1:n.-244G>T | |
| ENST00000369452.9:c.-244G>T MANE Select | ENSP00000358464.5:n.-244G>T | |
| ENST00000369452.8:c.-244G>T | ENSP00000358464.4:n.-244G>T | |
| ENST00000480155.1:n.56G>T | ||
| ENST00000489390.1:n.46G>T | ||
| NM_007373.3:c.-244G>T , LRG_753t1:c.-244G>T | NP_031399.2:n.-244G>T | |
| XM_011540216.1:c.-390G>T | XP_011538518.1:n.-390G>T | |
| NM_001269039.2:c.-244G>T | NP_001255968.1:n.-244G>T | |
| NM_001324336.1:c.-235+207G>T | NP_001311265.1:n.-235+207G>T | |
| NM_001324337.1:c.-429G>T | NP_001311266.1:n.-429G>T | |
| NR_136749.1:n.106G>T | ||
| NM_007373.4:c.-244G>T MANE Select | NP_031399.2:n.-244G>T | |
| NM_001269039.3:c.-244G>T | NP_001255968.1:n.-244G>T | |
| NM_001324336.2:c.-235+207G>T | NP_001311265.1:n.-235+207G>T | |
| NM_001324337.2:c.-429G>T | NP_001311266.1:n.-429G>T | |
| NR_136749.2:n.45G>T |