Linked Data
dbSNP Id:
rs1358538134
gnomAD v2:
16-28948681-G-A
gnomAD v3:
16-28937360-G-A
gnomAD v4:
16-28937360-G-A
COSMIC:
COSM1709039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28937360G>A , CM000678.2:g.28937360G>A | GRCh38 |
| NC_000016.9:g.28948681G>A , CM000678.1:g.28948681G>A | GRCh37 |
| NC_000016.8:g.28856182G>A | NCBI36 |
| NG_007275.1:g.10422G>A , LRG_35:g.10422G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324662.8:c.1288G>A | ENSP00000313419.4:p.Asp430Asn | |
| ENST00000538922.8:c.1288G>A MANE Select | ENSP00000437940.2:p.Asp430Asn | |
| ENST00000324662.7:c.1288G>A | ENSP00000313419.3:p.Asp430Asn | |
| ENST00000538922.5:c.1288G>A | ENSP00000437940.1:p.Asp430Asn | |
| ENST00000565089.5:n.1622G>A | ||
| ENST00000567368.1:n.428G>A | ||
| ENST00000567541.5:c.1288G>A | ENSP00000456201.1:p.Asp430Asn | |
| ENST00000611258.4:c.1287G>A | ENSP00000481090.1:p.Arg429= | |
| NM_001178098.1:c.1288G>A | NP_001171569.1:p.Asp430Asn | |
| NM_001770.5:c.1288G>A , LRG_35t1:c.1288G>A | NP_001761.3:p.Asp430Asn | |
| XM_006721103.2:c.1021G>A | XP_006721166.1:p.Asp341Asn | |
| XM_006721103.3:c.1021G>A | XP_006721166.1:p.Asp341Asn | |
| XM_017023893.1:c.1021G>A | XP_016879382.1:p.Asp341Asn | |
| NM_001178098.2:c.1288G>A | NP_001171569.1:p.Asp430Asn | |
| NM_001770.6:c.1288G>A MANE Select | NP_001761.3:p.Asp430Asn | |
| NM_001385732.1:c.1021G>A | NP_001372661.1:p.Asp341Asn | |
| NR_169755.1:n.1630G>A |