Linked Data
ClinVar Variation Id:
1161581
ClinVar RCV Id:
RCV001506135
dbSNP Id:
rs201761017
ExAC:
11:68213893 G / T
gnomAD v2:
11-68213893-G-T
gnomAD v3:
11-68446425-G-T
gnomAD v4:
11-68446425-G-T
MyVariant Identifiers:
chr11:g.68213893G>T (hg19)
chr11:g.68213893_68213895delinsTCT (hg19)
chr11:g.68446425G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68446425G>T , CM000673.2:g.68446425G>T | GRCh38 |
| NC_000011.9:g.68213893G>T , CM000673.1:g.68213893G>T | GRCh37 |
| NC_000011.8:g.67970469G>T | NCBI36 |
| NG_015835.1:g.138786G>T | |
| NG_015835.2:g.138786G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.4489-11G>T MANE Select | ENSP00000294304.6:n.4489-11G>T | |
| ENST00000294304.11:c.4489-11G>T | ENSP00000294304.6:n.4489-11G>T | |
| ENST00000529702.1:c.159-11G>T | ||
| ENST00000529993.5:c.*3095-11G>T | ENSP00000436652.1:n.*3095-11G>T | |
| NM_001291902.1:c.2746-11G>T | NP_001278831.1:n.2746-11G>T | |
| NM_002335.3:c.4489-11G>T | NP_002326.2:n.4489-11G>T | |
| XM_005273994.2:c.4603-11G>T | XP_005274051.1:n.4603-11G>T | |
| XM_011545029.1:c.4630-11G>T | XP_011543331.1:n.4630-11G>T | |
| XM_011545030.1:c.4516-11G>T | XP_011543332.1:n.4516-11G>T | |
| XM_011545031.1:c.4646-11G>T | XP_011543333.1:n.4646-11G>T | |
| XR_949925.1:n.4645-11G>T | ||
| XR_949926.1:n.4661-11G>T | ||
| XM_017017735.1:c.2860-11G>T | XP_016873224.1:n.2860-11G>T | |
| XM_017017736.1:c.2143-11G>T | XP_016873225.1:n.2143-11G>T | |
| XR_949925.2:n.4645-11G>T | ||
| XR_949926.2:n.4661-11G>T | ||
| NM_002335.4:c.4489-11G>T MANE Select | NP_002326.2:n.4489-11G>T | |
| NM_001291902.2:c.2746-11G>T | NP_001278831.1:n.2746-11G>T |