Linked Data
dbSNP Id:
rs1485493307
gnomAD v2:
2-136590726-A-T
gnomAD v3:
2-135833156-A-T
gnomAD v4:
2-135833156-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833156A>T , CM000664.2:g.135833156A>T | GRCh38 |
| NC_000002.11:g.136590726A>T , CM000664.1:g.136590726A>T | GRCh37 |
| NC_000002.10:g.136307196A>T | NCBI36 |
| NG_008104.2:g.27014T>A , LRG_338:g.27014T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.675T>A MANE Select | ENSP00000264162.2:p.Asp225Glu | |
| ENST00000264162.6:c.675T>A | ENSP00000264162.2:p.Asp225Glu | |
| NM_002299.2:c.675T>A , LRG_338t1:c.675T>A | NP_002290.2:p.Asp225Glu | |
| NM_002299.3:c.675T>A | NP_002290.2:p.Asp225Glu | |
| XM_017004088.2:c.675T>A | XP_016859577.1:p.Asp225Glu | |
| NM_002299.4:c.675T>A MANE Select | NP_002290.2:p.Asp225Glu |