Linked Data
dbSNP Id:
rs1249861390
gnomAD v2:
11-67250661-A-G
gnomAD v3:
11-67483190-A-G
gnomAD v4:
11-67483190-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483190A>G , CM000673.2:g.67483190A>G | GRCh38 |
| NC_000011.9:g.67250661A>G , CM000673.1:g.67250661A>G | GRCh37 |
| NC_000011.8:g.67007237A>G | NCBI36 |
| NG_008969.1:g.5157A>G , LRG_460:g.5157A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.9A>G | ||
| ENST00000528641.7:c.32A>G | ENSP00000434982.3:p.Asp11Gly | |
| ENST00000682324.1:c.32A>G | ENSP00000508017.1:p.Asp11Gly | |
| ENST00000682659.1:c.32A>G | ENSP00000507351.1:p.Asp11Gly | |
| ENST00000682699.1:c.32A>G | ENSP00000507935.1:p.Asp11Gly | |
| ENST00000683237.1:c.32A>G | ENSP00000507343.1:p.Asp11Gly | |
| ENST00000684006.1:c.32A>G | ENSP00000507269.1:p.Asp11Gly | |
| ENST00000684657.1:c.32A>G | ENSP00000507961.1:p.Asp11Gly | |
| ENST00000279146.8:c.32A>G MANE Select | ENSP00000279146.3:p.Asp11Gly | |
| ENST00000279146.7:c.32A>G | ENSP00000279146.3:p.Asp11Gly | |
| ENST00000528641.6:c.32A>G | ENSP00000434982.2:p.Asp11Gly | |
| ENST00000529797.1:n.142A>G | ||
| NM_001302960.1:c.32A>G | NP_001289889.1:p.Asp11Gly | |
| NM_003977.3:c.32A>G | NP_003968.3:p.Asp11Gly | |
| XM_024448761.1:c.32A>G | XP_024304529.1:p.Asp11Gly | |
| NM_003977.4:c.32A>G MANE Select | NP_003968.3:p.Asp11Gly | |
| NM_001302960.2:c.32A>G | NP_001289889.1:p.Asp11Gly |