Linked Data
dbSNP Id:
rs2301753
ExAC:
6:30039240 G / T
gnomAD v2:
6-30039240-G-T
gnomAD v3:
6-30071463-G-T
gnomAD v4:
6-30071463-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30071463G>T , CM000668.2:g.30071463G>T | GRCh38 |
| NC_000006.11:g.30039240G>T , CM000668.1:g.30039240G>T | GRCh37 |
| NC_000006.10:g.30147219G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244360.8:c.707C>A MANE Select | ENSP00000244360.7:p.Ala236Glu | |
| ENST00000244360.7:c.707C>A | ENSP00000244360.7:p.Ala236Glu | |
| ENST00000376751.8:c.707C>A | ENSP00000365942.4:p.Ala236Glu | |
| ENST00000244360.6:c.911C>A | ENSP00000244360.6:p.Ala304Glu | |
| ENST00000376751.7:c.911C>A | ENSP00000365942.3:p.Ala304Glu | |
| NM_025236.3:c.911C>A | NP_079512.2:p.Ala304Glu | |
| NM_170769.2:c.911C>A | NP_739575.2:p.Ala304Glu | |
| XM_017011325.1:c.452C>A | XP_016866814.1:p.Ala151Glu | |
| NM_025236.4:c.707C>A MANE Select | NP_079512.3:p.Ala236Glu | |
| NM_170769.3:c.707C>A | NP_739575.3:p.Ala236Glu |