Linked Data
ClinVar Variation Id:
2817680
ClinVar RCV Id:
RCV003648227
gnomAD v4:
11-2776001-G-A
MyVariant Identifiers:
chr11:g.2797231G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776001G>A , CM000673.2:g.2776001G>A | GRCh38 |
| NC_000011.9:g.2797231G>A , CM000673.1:g.2797231G>A | GRCh37 |
| NC_000011.8:g.2753807G>A | NCBI36 |
| NG_008935.1:g.336011G>A , LRG_287:g.336011G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1275G>A | ENSP00000434560.2:p.Gln425= | |
| ENST00000646564.2:c.1092G>A | ENSP00000495806.2:p.Gln364= | |
| ENST00000155840.12:c.1632G>A MANE Select | ENSP00000155840.2:p.Gln544= | |
| ENST00000335475.6:c.1251G>A | ENSP00000334497.5:p.Gln417= | |
| ENST00000646564.1:c.738G>A | ENSP00000495806.1:p.Gln246= | |
| ENST00000155840.9:c.1632G>A | ENSP00000155840.2:p.Gln544= | |
| ENST00000335475.5:c.1251G>A | ENSP00000334497.5:p.Gln417= | |
| NM_000218.2:c.1632G>A , LRG_287t1:c.1632G>A | NP_000209.2:p.Gln544= | |
| NM_181798.1:c.1251G>A , LRG_287t2:c.1251G>A | NP_861463.1:p.Gln417= | |
| NM_000218.3:c.1632G>A MANE Select | NP_000209.2:p.Gln544= |