Linked Data
ClinVar Variation Id:
2825367
ClinVar RCV Id:
RCV003751944
gnomAD v4:
11-68807476-C-T
MyVariant Identifiers:
chr11:g.68574944C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68807476C>T , CM000673.2:g.68807476C>T | GRCh38 |
| NC_000011.9:g.68574944C>T , CM000673.1:g.68574944C>T | GRCh37 |
| NC_000011.8:g.68331520C>T | NCBI36 |
| NG_011801.1:g.39456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.444G>A MANE Select | ENSP00000265641.4:p.Lys148= | |
| ENST00000265641.9:c.444G>A | ENSP00000265641.4:p.Lys148= | |
| ENST00000376618.6:c.444G>A | ENSP00000365803.2:p.Lys148= | |
| ENST00000539743.5:c.444G>A | ENSP00000446108.1:p.Lys148= | |
| ENST00000540367.5:c.444G>A | ENSP00000439084.1:p.Lys148= | |
| NM_001031847.2:c.444G>A | NP_001027017.1:p.Lys148= | |
| NM_001876.3:c.444G>A | NP_001867.2:p.Lys148= | |
| XM_005273762.1:c.540G>A | XP_005273819.1:p.Lys180= | |
| XM_005273763.1:c.540G>A | XP_005273820.1:p.Lys180= | |
| XM_005273762.3:c.540G>A | XP_005273819.1:p.Lys180= | |
| XM_017017220.1:c.444G>A | XP_016872709.1:p.Lys148= | |
| NM_001876.4:c.444G>A MANE Select | NP_001867.2:p.Lys148= | |
| NM_001031847.3:c.444G>A | NP_001027017.1:p.Lys148= |