Linked Data
ClinVar Variation Id:
240121
dbSNP Id:
rs142704935
ExAC:
11:119158665 G / T
gnomAD v2:
11-119158665-G-T
gnomAD v3:
11-119287955-G-T
gnomAD v4:
11-119287955-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119287955G>T , CM000673.2:g.119287955G>T | GRCh38 |
| NC_000011.9:g.119158665G>T , CM000673.1:g.119158665G>T | GRCh37 |
| NC_000011.8:g.118663875G>T | NCBI36 |
| NG_016808.1:g.86676G>T , LRG_608:g.86676G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1488+9G>T | ENSP00000515005.1:n.*1488+9G>T | |
| ENST00000264033.6:c.2036+9G>T MANE Select | ENSP00000264033.3:n.2036+9G>T | |
| ENST00000637974.1:c.2030+9G>T | ENSP00000490763.1:n.2030+9G>T | |
| ENST00000264033.5:c.2036+9G>T | ENSP00000264033.3:n.2036+9G>T | |
| ENST00000634586.1:c.2036+9G>T | ENSP00000489218.1:n.2036+9G>T | |
| ENST00000634840.1:c.1904+9G>T | ENSP00000489324.1:n.1904+9G>T | |
| NM_005188.3:c.2036+9G>T , LRG_608t1:c.2036+9G>T | NP_005179.2:n.2036+9G>T | |
| NM_005188.4:c.2036+9G>T MANE Select | NP_005179.2:n.2036+9G>T |