Linked Data
ClinVar Variation Id:
2968724
ClinVar RCV Id:
RCV003829370
dbSNP Id:
rs775104031
gnomAD v4:
11-2528009-C-T
MyVariant Identifiers:
chr11:g.2549239C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2528009C>T , CM000673.2:g.2528009C>T | GRCh38 |
| NC_000011.9:g.2549239C>T , CM000673.1:g.2549239C>T | GRCh37 |
| NC_000011.8:g.2505815C>T | NCBI36 |
| NG_008935.1:g.88019C>T , LRG_287:g.88019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.207C>T | ENSP00000434560.2:p.Leu69= | |
| ENST00000646564.2:c.468C>T | ENSP00000495806.2:p.Leu156= | |
| ENST00000155840.12:c.468C>T MANE Select | ENSP00000155840.2:p.Leu156= | |
| ENST00000335475.6:c.87C>T | ENSP00000334497.5:p.Leu29= | |
| ENST00000646564.1:c.114C>T | ENSP00000495806.1:p.Leu38= | |
| ENST00000155840.9:c.468C>T | ENSP00000155840.2:p.Leu156= | |
| ENST00000335475.5:c.87C>T | ENSP00000334497.5:p.Leu29= | |
| ENST00000496887.6:c.207C>T | ENSP00000434560.1:p.Leu69= | |
| NM_000218.2:c.468C>T , LRG_287t1:c.468C>T | NP_000209.2:p.Leu156= | |
| NM_181798.1:c.87C>T , LRG_287t2:c.87C>T | NP_861463.1:p.Leu29= | |
| NM_000218.3:c.468C>T MANE Select | NP_000209.2:p.Leu156= |