Linked Data
dbSNP Id:
rs782228552
ExAC:
12:6979457 G / C
gnomAD v2:
12-6979457-G-C
gnomAD v4:
12-6870293-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870293G>C , CM000674.2:g.6870293G>C | GRCh38 |
| NC_000012.11:g.6979457G>C , CM000674.1:g.6979457G>C | GRCh37 |
| NC_000012.10:g.6849718G>C | NCBI36 |
| NG_011948.1:g.7874G>C | |
| NG_013308.1:g.8065C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.660G>C MANE Select | ENSP00000379933.4:p.Glu220Asp | |
| ENST00000229270.8:c.771G>C | ENSP00000229270.4:p.Glu257Asp | |
| ENST00000396705.9:c.660G>C | ENSP00000379933.4:p.Glu220Asp | |
| ENST00000474253.1:n.149G>C | ||
| ENST00000488464.6:c.414G>C | ENSP00000475620.1:p.Glu138Asp | |
| ENST00000535434.5:c.414G>C | ENSP00000443599.1:p.Glu138Asp | |
| ENST00000613953.4:c.771G>C | ENSP00000484435.1:p.Glu257Asp | |
| NM_000365.5:c.660G>C | NP_000356.1:p.Glu220Asp | |
| NM_001159287.1:c.771G>C | NP_001152759.1:p.Glu257Asp | |
| NM_001258026.1:c.414G>C | NP_001244955.1:p.Glu138Asp | |
| XR_002957378.1:n.1668G>C | ||
| NM_000365.6:c.660G>C MANE Select | NP_000356.1:p.Glu220Asp | |
| NM_001258026.2:c.414G>C | NP_001244955.1:p.Glu138Asp |