Linked Data
dbSNP Id:
rs6902544
ExAC:
6:30548210 A / G
gnomAD v2:
6-30548210-A-G
gnomAD v3:
6-30580433-A-G
gnomAD v4:
6-30580433-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30580433A>G , CM000668.2:g.30580433A>G | GRCh38 |
| NC_000006.11:g.30548210A>G , CM000668.1:g.30548210A>G | GRCh37 |
| NC_000006.10:g.30656189A>G | NCBI36 |
| NG_047030.1:g.14041A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326195.13:c.592A>G MANE Select | ENSP00000313603.8:p.Asn198Asp | |
| ENST00000441867.6:c.595A>G | ENSP00000405512.2:p.Asn199Asp | |
| ENST00000326195.12:c.592A>G | ENSP00000313603.8:p.Asn198Asp | |
| ENST00000376545.7:c.592A>G | ENSP00000365728.3:p.Asn198Asp | |
| ENST00000441867.5:c.595A>G | ENSP00000405512.1:p.Asn199Asp | |
| ENST00000468958.1:c.301A>G | ENSP00000440893.1:p.Asn101Asp | |
| NM_001025091.1:c.592A>G | NP_001020262.1:p.Asn198Asp | |
| NM_001090.2:c.592A>G | NP_001081.1:p.Asn198Asp | |
| NM_001025091.2:c.592A>G MANE Select | NP_001020262.1:p.Asn198Asp | |
| NM_001090.3:c.592A>G | NP_001081.1:p.Asn198Asp |