Linked Data
dbSNP Id:
rs1848360062
gnomAD v3:
11-2572872-C-T
gnomAD v4:
11-2572872-C-T
MyVariant Identifiers:
chr11:g.2594102C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572872C>T , CM000673.2:g.2572872C>T | GRCh38 |
| NC_000011.9:g.2594102C>T , CM000673.1:g.2594102C>T | GRCh37 |
| NC_000011.8:g.2550678C>T | NCBI36 |
| NG_008935.1:g.132882C>T , LRG_287:g.132882C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.546C>T | ENSP00000434560.2:p.Gly182= | |
| ENST00000646564.2:c.478-10563C>T | ENSP00000495806.2:n.478-10563C>T | |
| ENST00000155840.12:c.807C>T MANE Select | ENSP00000155840.2:p.Gly269= | |
| ENST00000335475.6:c.426C>T | ENSP00000334497.5:p.Gly142= | |
| ENST00000646564.1:c.124-10563C>T | ENSP00000495806.1:n.124-10563C>T | |
| ENST00000155840.9:c.807C>T | ENSP00000155840.2:p.Gly269= | |
| ENST00000335475.5:c.426C>T | ENSP00000334497.5:p.Gly142= | |
| ENST00000496887.6:c.546C>T | ENSP00000434560.1:p.Gly182= | |
| NM_000218.2:c.807C>T , LRG_287t1:c.807C>T | NP_000209.2:p.Gly269= | |
| NM_181798.1:c.426C>T , LRG_287t2:c.426C>T | NP_861463.1:p.Gly142= | |
| NM_000218.3:c.807C>T MANE Select | NP_000209.2:p.Gly269= |