Linked Data
dbSNP Id:
rs762556724
ExAC:
2:26690060 C / G
gnomAD v2:
2-26690060-C-G
gnomAD v4:
2-26467192-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467192C>G , CM000664.2:g.26467192C>G | GRCh38 |
| NC_000002.11:g.26690060C>G , CM000664.1:g.26690060C>G | GRCh37 |
| NC_000002.10:g.26543564C>G | NCBI36 |
| NG_009937.1:g.96507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4269G>C MANE Select | ENSP00000272371.2:p.Glu1423Asp | |
| ENST00000339598.8:c.1968G>C MANE Plus Clinical | ENSP00000344521.3:p.Glu656Asp | |
| ENST00000402415.8:c.2028G>C | ENSP00000383906.4:p.Glu676Asp | |
| ENST00000272371.6:c.4269G>C | ENSP00000272371.2:p.Glu1423Asp | |
| ENST00000338581.10:c.1968G>C | ENSP00000345137.6:p.Glu656Asp | |
| ENST00000339598.7:c.1968G>C | ENSP00000344521.3:p.Glu656Asp | |
| ENST00000402415.7:c.2199G>C | ENSP00000383906.3:p.Glu733Asp | |
| ENST00000403946.7:c.4269G>C | ENSP00000385255.3:p.Glu1423Asp | |
| NM_001287489.1:c.4269G>C | NP_001274418.1:p.Glu1423Asp | |
| NM_004802.3:c.1968G>C | NP_004793.2:p.Glu656Asp | |
| NM_194248.2:c.4269G>C | NP_919224.1:p.Glu1423Asp | |
| NM_194322.2:c.2199G>C | NP_919303.1:p.Glu733Asp | |
| NM_194323.2:c.1968G>C | NP_919304.1:p.Glu656Asp | |
| XM_005264644.2:c.4254G>C | XP_005264701.1:p.Glu1418Asp | |
| XM_011533185.1:c.4314G>C | XP_011531487.1:p.Glu1438Asp | |
| XM_017005338.1:c.4209G>C | XP_016860827.1:p.Glu1403Asp | |
| NM_001287489.2:c.4269G>C | NP_001274418.1:p.Glu1423Asp | |
| NM_004802.4:c.1968G>C | NP_004793.2:p.Glu656Asp | |
| NM_194248.3:c.4269G>C MANE Select | NP_919224.1:p.Glu1423Asp | |
| NM_194322.3:c.2199G>C | NP_919303.1:p.Glu733Asp | |
| NM_194323.3:c.1968G>C MANE Plus Clinical | NP_919304.1:p.Glu656Asp |