Linked Data
dbSNP Id:
rs1029698984
gnomAD v2:
9-130577510-C-T
gnomAD v3:
9-127815231-C-T
gnomAD v4:
9-127815231-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815231C>T , CM000671.2:g.127815231C>T | GRCh38 |
| NC_000009.11:g.130577510C>T , CM000671.1:g.130577510C>T | GRCh37 |
| NC_000009.10:g.129617331C>T | NCBI36 |
| NG_009551.1:g.44538G>A , LRG_589:g.44538G>A | |
| NG_023245.1:g.17357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*451G>A | ENSP00000479015.1:n.*451G>A | |
| ENST00000373203.9:c.*451G>A MANE Select | ENSP00000362299.4:n.*451G>A | |
| ENST00000344849.4:c.*686G>A | ENSP00000341917.3:n.*686G>A | |
| ENST00000373203.8:c.*451G>A | ENSP00000362299.4:n.*451G>A | |
| ENST00000480266.5:c.*451G>A | ENSP00000479015.1:n.*451G>A | |
| NM_000118.3:c.*686G>A , LRG_589t1:c.*686G>A | NP_000109.1:n.*686G>A | |
| NM_001114753.2:c.*451G>A , LRG_589t2:c.*451G>A | NP_001108225.1:n.*451G>A | |
| NM_001278138.1:c.*451G>A | NP_001265067.1:n.*451G>A | |
| NM_001114753.3:c.*451G>A MANE Select | NP_001108225.1:n.*451G>A | |
| NM_001278138.2:c.*451G>A | NP_001265067.1:n.*451G>A |