Linked Data
dbSNP Id:
rs1389565545
gnomAD v2:
7-87179293-T-G
gnomAD v3:
7-87549977-T-G
gnomAD v4:
7-87549977-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87549977T>G , CM000669.2:g.87549977T>G | GRCh38 |
| NC_000007.13:g.87179293T>G , CM000669.1:g.87179293T>G | GRCh37 |
| NC_000007.12:g.87017229T>G | NCBI36 |
| NG_011513.1:g.168272A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1428A>C | ENSP00000265724.3:p.Glu476Asp | |
| ENST00000622132.5:c.1428A>C MANE Select | ENSP00000478255.1:p.Glu476Asp | |
| ENST00000265724.7:c.1428A>C | ENSP00000265724.3:p.Glu476Asp | |
| ENST00000482527.1:n.182A>C | ||
| ENST00000543898.5:c.1236A>C | ENSP00000444095.1:p.Glu412Asp | |
| ENST00000622132.4:c.1428A>C | ENSP00000478255.1:p.Glu476Asp | |
| NM_000927.4:c.1428A>C | NP_000918.2:p.Glu476Asp | |
| NM_001348944.1:c.1428A>C | NP_001335873.1:p.Glu476Asp | |
| NM_001348945.1:c.1638A>C | NP_001335874.1:p.Glu546Asp | |
| NM_001348946.1:c.1428A>C | NP_001335875.1:p.Glu476Asp | |
| NM_001348946.2:c.1428A>C MANE Select | NP_001335875.1:p.Glu476Asp | |
| NM_000927.5:c.1428A>C | NP_000918.2:p.Glu476Asp | |
| NM_001348944.2:c.1428A>C | NP_001335873.1:p.Glu476Asp | |
| NM_001348945.2:c.1638A>C | NP_001335874.1:p.Glu546Asp |