Linked Data
dbSNP Id:
rs1046700956
gnomAD v2:
22-30090931-A-G
gnomAD v3:
22-29694942-A-G
gnomAD v4:
22-29694942-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29694942A>G , CM000684.2:g.29694942A>G | GRCh38 |
| NC_000022.10:g.30090931A>G , CM000684.1:g.30090931A>G | GRCh37 |
| NC_000022.9:g.28420931A>G | NCBI36 |
| NG_009057.1:g.96387A>G , LRG_511:g.96387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.*140A>G | ENSP00000354529.6:n.*140A>G | |
| ENST00000673312.2:c.*1422A>G | ENSP00000500186.2:n.*1422A>G | |
| ENST00000338641.10:c.*140A>G MANE Select | ENSP00000344666.5:n.*140A>G | |
| ENST00000361166.9:c.1346A>G | ENSP00000354529.5:n.1346A>G | |
| ENST00000672461.1:c.*200A>G | ENSP00000500919.1:n.*200A>G | |
| ENST00000672805.1:c.*1810A>G | ENSP00000500295.1:n.*1810A>G | |
| ENST00000672896.1:c.*200A>G | ENSP00000500117.1:n.*200A>G | |
| ENST00000673312.1:c.1947A>G | ENSP00000500186.1:n.1947A>G | |
| ENST00000338641.8:c.*140A>G | ENSP00000344666.4:n.*140A>G | |
| ENST00000361452.8:c.*200A>G | ENSP00000354897.4:n.*200A>G | |
| ENST00000413209.6:c.*140A>G | ENSP00000409921.2:n.*140A>G | |
| ENST00000432151.5:c.*284A>G | ENSP00000395885.1:n.*284A>G | |
| NM_000268.3:c.*140A>G , LRG_511t1:c.*140A>G | NP_000259.1:n.*140A>G | |
| NM_016418.5:c.*200A>G , LRG_511t2:c.*200A>G | NP_057502.2:n.*200A>G | |
| NM_181828.2:c.*200A>G | NP_861966.1:n.*200A>G | |
| NM_181829.2:c.*200A>G | NP_861967.1:n.*200A>G | |
| NM_181830.2:c.*200A>G | NP_861968.1:n.*200A>G | |
| NM_181832.2:c.*215A>G | NP_861970.1:n.*215A>G | |
| NM_181833.2:c.*140A>G | NP_861971.1:n.*140A>G | |
| NR_156186.1:n.2487A>G | ||
| XM_017028809.2:c.*140A>G | XP_016884298.1:n.*140A>G | |
| XM_017028810.1:c.*200A>G | XP_016884299.1:n.*200A>G | |
| NM_000268.4:c.*140A>G MANE Select | NP_000259.1:n.*140A>G | |
| NM_181828.3:c.*200A>G | NP_861966.1:n.*200A>G | |
| NM_181829.3:c.*200A>G | NP_861967.1:n.*200A>G | |
| NM_181830.3:c.*200A>G | NP_861968.1:n.*200A>G | |
| NM_181832.3:c.*215A>G | NP_861970.1:n.*215A>G | |
| NR_156186.2:n.2410A>G | ||
| NM_181833.3:c.*140A>G | NP_861971.1:n.*140A>G |