Linked Data
dbSNP Id:
rs1305029045
gnomAD v2:
9-130577532-A-G
gnomAD v3:
9-127815253-A-G
gnomAD v4:
9-127815253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815253A>G , CM000671.2:g.127815253A>G | GRCh38 |
| NC_000009.11:g.130577532A>G , CM000671.1:g.130577532A>G | GRCh37 |
| NC_000009.10:g.129617353A>G | NCBI36 |
| NG_009551.1:g.44516T>C , LRG_589:g.44516T>C | |
| NG_023245.1:g.17379A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*429T>C | ENSP00000479015.1:n.*429T>C | |
| ENST00000373203.9:c.*429T>C MANE Select | ENSP00000362299.4:n.*429T>C | |
| ENST00000344849.4:c.*664T>C | ENSP00000341917.3:n.*664T>C | |
| ENST00000373203.8:c.*429T>C | ENSP00000362299.4:n.*429T>C | |
| ENST00000480266.5:c.*429T>C | ENSP00000479015.1:n.*429T>C | |
| NM_000118.3:c.*664T>C , LRG_589t1:c.*664T>C | NP_000109.1:n.*664T>C | |
| NM_001114753.2:c.*429T>C , LRG_589t2:c.*429T>C | NP_001108225.1:n.*429T>C | |
| NM_001278138.1:c.*429T>C | NP_001265067.1:n.*429T>C | |
| NM_001114753.3:c.*429T>C MANE Select | NP_001108225.1:n.*429T>C | |
| NM_001278138.2:c.*429T>C | NP_001265067.1:n.*429T>C |