Linked Data
dbSNP Id:
rs530696509
gnomAD v2:
11-2606358-C-T
gnomAD v3:
11-2585128-C-T
gnomAD v4:
11-2585128-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585128C>T , CM000673.2:g.2585128C>T | GRCh38 |
| NC_000011.9:g.2606358C>T , CM000673.1:g.2606358C>T | GRCh37 |
| NC_000011.8:g.2562934C>T | NCBI36 |
| NG_008935.1:g.145138C>T , LRG_287:g.145138C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.771+1583C>T | ENSP00000434560.2:n.771+1583C>T | |
| ENST00000646564.2:c.588+1583C>T | ENSP00000495806.2:n.588+1583C>T | |
| ENST00000155840.12:c.1033-84C>T MANE Select | ENSP00000155840.2:n.1033-84C>T | |
| ENST00000335475.6:c.652-84C>T | ENSP00000334497.5:n.652-84C>T | |
| ENST00000646564.1:c.234+1583C>T | ENSP00000495806.1:n.234+1583C>T | |
| ENST00000155840.9:c.1033-84C>T | ENSP00000155840.2:n.1033-84C>T | |
| ENST00000335475.5:c.652-84C>T | ENSP00000334497.5:n.652-84C>T | |
| NM_000218.2:c.1033-84C>T , LRG_287t1:c.1033-84C>T | NP_000209.2:n.1033-84C>T | |
| NM_181798.1:c.652-84C>T , LRG_287t2:c.652-84C>T | NP_861463.1:n.652-84C>T | |
| NM_000218.3:c.1033-84C>T MANE Select | NP_000209.2:n.1033-84C>T |