Linked Data
ClinVar Variation Id:
2180818
ClinVar RCV Id:
RCV002603014
gnomAD v4:
11-2588829-C-T
MyVariant Identifiers:
chr11:g.2610059C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2588829C>T , CM000673.2:g.2588829C>T | GRCh38 |
| NC_000011.9:g.2610059C>T , CM000673.1:g.2610059C>T | GRCh37 |
| NC_000011.8:g.2566635C>T | NCBI36 |
| NG_008935.1:g.148839C>T , LRG_287:g.148839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1011C>T | ENSP00000434560.2:p.Phe337= | |
| ENST00000646564.2:c.828C>T | ENSP00000495806.2:p.Phe276= | |
| ENST00000155840.12:c.1368C>T MANE Select | ENSP00000155840.2:p.Phe456= | |
| ENST00000335475.6:c.987C>T | ENSP00000334497.5:p.Phe329= | |
| ENST00000646564.1:c.474C>T | ENSP00000495806.1:p.Phe158= | |
| ENST00000155840.9:c.1368C>T | ENSP00000155840.2:p.Phe456= | |
| ENST00000335475.5:c.987C>T | ENSP00000334497.5:p.Phe329= | |
| NM_000218.2:c.1368C>T , LRG_287t1:c.1368C>T | NP_000209.2:p.Phe456= | |
| NM_181798.1:c.987C>T , LRG_287t2:c.987C>T | NP_861463.1:p.Phe329= | |
| NM_000218.3:c.1368C>T MANE Select | NP_000209.2:p.Phe456= |