Linked Data
ClinVar Variation Id:
1122830
ClinVar RCV Id:
RCV001453627
dbSNP Id:
rs148774268
ExAC:
3:150659409 C / A
gnomAD v2:
3-150659409-C-A
gnomAD v3:
3-150941622-C-A
gnomAD v4:
3-150941622-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150941622C>A , CM000665.2:g.150941622C>A | GRCh38 |
| NC_000003.11:g.150659409C>A , CM000665.1:g.150659409C>A | GRCh37 |
| NC_000003.10:g.152142099C>A | NCBI36 |
| NG_009168.1:g.36378G>T , LRG_700:g.36378G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.393G>T MANE Select | ENSP00000322280.1:p.Leu131= | |
| ENST00000468836.2:c.541G>T | ENSP00000419892.2:n.541G>T | |
| ENST00000644099.1:c.385G>T | ENSP00000494762.1:n.385G>T | |
| ENST00000295911.6:c.165G>T | ENSP00000295911.2:p.Leu55= | |
| ENST00000327047.5:c.393G>T | ENSP00000322280.1:p.Leu131= | |
| ENST00000328863.8:c.393G>T | ENSP00000329158.4:p.Leu131= | |
| ENST00000468836.1:c.165G>T | ENSP00000419892.1:p.Leu55= | |
| ENST00000472224.1:n.399G>T | ||
| ENST00000485607.1:c.57G>T | ENSP00000419244.1:p.Leu19= | |
| ENST00000562308.5:c.64G>T | ||
| ENST00000565169.1:c.122G>T | ||
| ENST00000569170.5:c.122G>T | ||
| NM_001195794.1:c.393G>T , LRG_700t1:c.393G>T | NP_001182723.1:p.Leu131= | |
| NM_001256819.1:c.*7G>T | NP_001243748.1:n.*7G>T | |
| NM_052995.2:c.165G>T , LRG_700t2:c.165G>T | NP_443721.1:p.Leu55= | |
| NM_174878.2:c.393G>T | NP_777367.1:p.Leu131= | |
| NR_046380.2:n.835G>T | ||
| XR_924167.1:n.705G>T | ||
| NM_001256819.2:c.*7G>T | NP_001243748.1:n.*7G>T | |
| NM_174878.3:c.393G>T MANE Select | NP_777367.1:p.Leu131= | |
| NR_046380.3:n.563G>T |