Linked Data
dbSNP Id:
rs770297801
ExAC:
15:50782678 G / C
gnomAD v2:
15-50782678-G-C
gnomAD v4:
15-50490481-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50490481G>C , CM000677.2:g.50490481G>C | GRCh38 |
| NC_000015.9:g.50782678G>C , CM000677.1:g.50782678G>C | GRCh37 |
| NC_000015.8:g.48569970G>C | NCBI36 |
| NG_047101.1:g.71105G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307179.9:c.2190G>C MANE Select | ENSP00000302239.4:p.Glu730Asp | |
| ENST00000307179.8:c.2190G>C | ENSP00000302239.4:p.Glu730Asp | |
| ENST00000396444.7:c.2190G>C | ENSP00000379721.3:p.Glu730Asp | |
| ENST00000425032.7:c.1872G>C | ENSP00000412682.3:p.Glu624Asp | |
| NM_001128610.2:c.2190G>C | NP_001122082.1:p.Glu730Asp | |
| NM_001283049.1:c.1872G>C | NP_001269978.1:p.Glu624Asp | |
| NM_005154.4:c.2190G>C | NP_005145.3:p.Glu730Asp | |
| XM_006720761.2:c.2190G>C | XP_006720824.1:p.Glu730Asp | |
| XM_006720762.2:c.2103G>C | XP_006720825.1:p.Glu701Asp | |
| XM_011522193.1:c.2190G>C | XP_011520495.1:p.Glu730Asp | |
| XM_011522194.1:c.1518G>C | XP_011520496.1:p.Glu506Asp | |
| XM_006720761.3:c.2190G>C | XP_006720824.1:p.Glu730Asp | |
| XM_006720762.3:c.2103G>C | XP_006720825.1:p.Glu701Asp | |
| XM_011522193.3:c.2190G>C | XP_011520495.1:p.Glu730Asp | |
| XM_017022718.1:c.2103G>C | XP_016878207.1:p.Glu701Asp | |
| XM_017022719.2:c.2103G>C | XP_016878208.1:p.Glu701Asp | |
| XM_017022720.2:c.2103G>C | XP_016878209.1:p.Glu701Asp | |
| XM_017022721.2:c.1620G>C | XP_016878210.1:p.Glu540Asp | |
| XM_017022722.1:c.1620G>C | XP_016878211.1:p.Glu540Asp | |
| XM_024450098.1:c.1620G>C | XP_024305866.1:p.Glu540Asp | |
| NM_005154.5:c.2190G>C MANE Select | NP_005145.3:p.Glu730Asp | |
| NM_001128610.3:c.2190G>C | NP_001122082.1:p.Glu730Asp | |
| NM_001283049.2:c.1872G>C | NP_001269978.1:p.Glu624Asp |