Linked Data
dbSNP Id:
rs753311842
ExAC:
11:2591841 C / T
gnomAD v2:
11-2591841-C-T
gnomAD v4:
11-2570611-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570611C>T , CM000673.2:g.2570611C>T | GRCh38 |
| NC_000011.9:g.2591841C>T , CM000673.1:g.2591841C>T | GRCh37 |
| NC_000011.8:g.2548417C>T | NCBI36 |
| NG_008935.1:g.130621C>T , LRG_287:g.130621C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.217-17C>T | ENSP00000434560.2:n.217-17C>T | |
| ENST00000646564.2:c.478-12824C>T | ENSP00000495806.2:n.478-12824C>T | |
| ENST00000155840.12:c.478-17C>T MANE Select | ENSP00000155840.2:n.478-17C>T | |
| ENST00000335475.6:c.97-17C>T | ENSP00000334497.5:n.97-17C>T | |
| ENST00000646564.1:c.124-12824C>T | ENSP00000495806.1:n.124-12824C>T | |
| ENST00000155840.9:c.478-17C>T | ENSP00000155840.2:n.478-17C>T | |
| ENST00000335475.5:c.97-17C>T | ENSP00000334497.5:n.97-17C>T | |
| ENST00000496887.6:c.217-17C>T | ENSP00000434560.1:n.217-17C>T | |
| NM_000218.2:c.478-17C>T , LRG_287t1:c.478-17C>T | NP_000209.2:n.478-17C>T | |
| NM_181798.1:c.97-17C>T , LRG_287t2:c.97-17C>T | NP_861463.1:n.97-17C>T | |
| NM_000218.3:c.478-17C>T MANE Select | NP_000209.2:n.478-17C>T |