Linked Data
ClinVar Variation Id:
2610342
ClinVar RCV Id:
RCV004355727
dbSNP Id:
rs947949622
gnomAD v2:
7-30695219-T-C
gnomAD v3:
7-30655603-T-C
gnomAD v4:
7-30655603-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30655603T>C , CM000669.2:g.30655603T>C | GRCh38 |
| NC_000007.13:g.30695219T>C , CM000669.1:g.30695219T>C | GRCh37 |
| NC_000007.12:g.30661744T>C | NCBI36 |
| NG_029169.1:g.49501A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471646.6:c.1030A>G MANE Select | ENSP00000418722.1:p.Asn344Asp | |
| ENST00000341843.8:c.988A>G | ENSP00000344304.4:p.Asn330Asp | |
| ENST00000348438.8:c.1111A>G | ENSP00000340943.4:p.Asn371Asp | |
| ENST00000452278.5:c.*1143A>G | ENSP00000401930.1:n.*1143A>G | |
| ENST00000471646.5:c.1030A>G | ENSP00000418722.1:p.Asn344Asp | |
| ENST00000506074.6:c.1030A>G | ENSP00000426498.3:p.Asn344Asp | |
| NM_001202475.1:c.1111A>G | NP_001189404.1:p.Asn371Asp | |
| NM_001202481.1:c.988A>G | NP_001189410.1:p.Asn330Asp | |
| NM_001202482.1:c.1027A>G | NP_001189411.1:p.Asn343Asp | |
| NM_001202483.1:c.1030A>G | NP_001189412.1:p.Asn344Asp | |
| NM_001883.4:c.1030A>G | NP_001874.2:p.Asn344Asp | |
| XM_011515127.1:c.1241A>G | XP_011513429.1:p.Gln414Arg | |
| XM_011515128.1:c.1030A>G | XP_011513430.1:p.Asn344Asp | |
| XM_011515129.1:c.1030A>G | XP_011513431.1:p.Asn344Asp | |
| XM_017011752.2:c.988A>G | XP_016867241.1:p.Asn330Asp | |
| XM_024446665.1:c.1030A>G | XP_024302433.1:p.Asn344Asp | |
| NM_001883.5:c.1030A>G MANE Select | NP_001874.2:p.Asn344Asp | |
| NM_001202482.2:c.1027A>G | NP_001189411.1:p.Asn343Asp | |
| NM_001202483.2:c.1030A>G | NP_001189412.1:p.Asn344Asp |