Linked Data
dbSNP Id:
rs2285714
ExAC:
4:110638810 C / T
gnomAD v2:
4-110638810-C-T
gnomAD v3:
4-109717654-C-T
gnomAD v4:
4-109717654-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109717654C>T , CM000666.2:g.109717654C>T | GRCh38 |
| NC_000004.11:g.110638810C>T , CM000666.1:g.110638810C>T | GRCh37 |
| NC_000004.10:g.110858259C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243501.10:c.345G>A MANE Select | ENSP00000243501.5:p.Glu115= | |
| ENST00000645635.1:c.1671G>A | ENSP00000493607.1:p.Glu557= | |
| ENST00000243501.9:c.345G>A | ENSP00000243501.5:p.Glu115= | |
| ENST00000502283.1:c.339G>A | ENSP00000425274.1:p.Glu113= | |
| ENST00000502772.1:n.139G>A | ||
| ENST00000507961.1:c.*55G>A | ENSP00000424021.1:n.*55G>A | |
| NM_030821.4:c.345G>A | NP_110448.2:p.Glu115= | |
| NM_030821.5:c.345G>A MANE Select | NP_110448.2:p.Glu115= |