Linked Data
dbSNP Id:
rs1229982479
gnomAD v2:
19-12767828-C-G
gnomAD v3:
19-12657014-C-G
gnomAD v4:
19-12657014-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657014C>G , CM000681.2:g.12657014C>G | GRCh38 |
| NC_000019.9:g.12767828C>G , CM000681.1:g.12767828C>G | GRCh37 |
| NC_000019.8:g.12628828C>G | NCBI36 |
| NG_008318.1:g.14764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1462G>C MANE Select | ENSP00000395473.2:p.Asp488His | |
| ENST00000221363.8:c.1459G>C | ENSP00000221363.4:p.Asp487His | |
| ENST00000433513.5:n.68G>C | ||
| ENST00000456935.6:c.1462G>C | ENSP00000395473.2:p.Asp488His | |
| ENST00000466794.5:n.1361G>C | ||
| ENST00000495617.1:n.638G>C | ||
| ENST00000593686.1:c.72G>C | ||
| ENST00000595880.5:n.59G>C | ||
| NM_000528.3:c.1462G>C | NP_000519.2:p.Asp488His | |
| NM_001173498.1:c.1459G>C | NP_001166969.1:p.Asp487His | |
| XM_005259913.1:c.1465G>C | XP_005259970.1:p.Asp489His | |
| XM_011528017.1:c.361G>C | XP_011526319.1:p.Asp121His | |
| XM_005259913.2:c.1465G>C | XP_005259970.1:p.Asp489His | |
| XM_024451518.1:c.361G>C | XP_024307286.1:p.Asp121His | |
| NM_000528.4:c.1462G>C MANE Select | NP_000519.2:p.Asp488His | |
| NM_001173498.2:c.1459G>C | NP_001166969.1:p.Asp487His |