Linked Data
dbSNP Id:
rs375680893
ExAC:
2:26705428 C / G
gnomAD v2:
2-26705428-C-G
gnomAD v4:
2-26482560-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482560C>G , CM000664.2:g.26482560C>G | GRCh38 |
| NC_000002.11:g.26705428C>G , CM000664.1:g.26705428C>G | GRCh37 |
| NC_000002.10:g.26558932C>G | NCBI36 |
| NG_009937.1:g.81139G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1425G>C MANE Select | ENSP00000272371.2:p.Glu475Asp | |
| ENST00000272371.6:c.1425G>C | ENSP00000272371.2:p.Glu475Asp | |
| ENST00000403946.7:c.1425G>C | ENSP00000385255.3:p.Glu475Asp | |
| NM_001287489.1:c.1425G>C | NP_001274418.1:p.Glu475Asp | |
| NM_194248.2:c.1425G>C | NP_919224.1:p.Glu475Asp | |
| XM_005264644.2:c.1470G>C | XP_005264701.1:p.Glu490Asp | |
| XM_011533185.1:c.1470G>C | XP_011531487.1:p.Glu490Asp | |
| XM_017005338.1:c.1425G>C | XP_016860827.1:p.Glu475Asp | |
| NM_001287489.2:c.1425G>C | NP_001274418.1:p.Glu475Asp | |
| NM_194248.3:c.1425G>C MANE Select | NP_919224.1:p.Glu475Asp |