Linked Data
dbSNP Id:
rs780087216
gnomAD v2:
1-197446817-C-G
gnomAD v3:
1-197477687-C-G
gnomAD v4:
1-197477687-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477687C>G , CM000663.2:g.197477687C>G | GRCh38 |
| NC_000001.10:g.197446817C>G , CM000663.1:g.197446817C>G | GRCh37 |
| NC_000001.9:g.195713440C>G | NCBI36 |
| NG_008483.1:g.214410C>G | |
| NG_008483.2:g.281226C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4029C>G MANE Select | ENSP00000356370.3:p.Asp1343Glu | |
| ENST00000367399.6:c.3693C>G | ENSP00000356369.2:p.Asp1231Glu | |
| ENST00000367400.7:c.4029C>G | ENSP00000356370.3:p.Asp1343Glu | |
| ENST00000448952.1:c.263C>G | ENSP00000395407.1:n.263C>G | |
| ENST00000484075.5:c.*140C>G | ENSP00000433932.1:n.*140C>G | |
| ENST00000535699.5:c.3957C>G | ENSP00000438786.1:p.Asp1319Glu | |
| ENST00000538660.5:c.2421C>G | ENSP00000438091.1:p.Asp807Glu | |
| NM_001193640.1:c.3693C>G | NP_001180569.1:p.Asp1231Glu | |
| NM_001257965.1:c.3957C>G | NP_001244894.1:p.Asp1319Glu | |
| NM_001257966.1:c.2421C>G | NP_001244895.1:p.Asp807Glu | |
| NM_201253.2:c.4029C>G | NP_957705.1:p.Asp1343Glu | |
| NR_047563.1:n.4030C>G | ||
| NR_047564.1:n.4480C>G | ||
| XM_011509366.1:c.*134C>G | XP_011507668.1:n.*134C>G | |
| XM_011509367.1:c.*8C>G | XP_011507669.1:n.*8C>G | |
| XM_011509368.1:c.3447C>G | XP_011507670.1:p.Asp1149Glu | |
| XM_011509369.1:c.2472C>G | XP_011507671.1:p.Asp824Glu | |
| XM_011509369.2:c.2472C>G | XP_011507671.1:p.Asp824Glu | |
| XM_017000851.1:c.3186C>G | XP_016856340.1:p.Asp1062Glu | |
| XM_017000852.1:c.4164C>G | XP_016856341.1:p.Asp1388Glu | |
| NM_201253.3:c.4029C>G MANE Select | NP_957705.1:p.Asp1343Glu | |
| NM_001193640.2:c.3693C>G | NP_001180569.1:p.Asp1231Glu | |
| NM_001257965.2:c.3957C>G | NP_001244894.1:p.Asp1319Glu | |
| NR_047563.2:n.3982C>G | ||
| NR_047564.2:n.4432C>G | ||
| NM_001257966.2:c.2421C>G | NP_001244895.1:p.Asp807Glu |