Linked Data
ClinVar Variation Id:
440194
dbSNP Id:
rs8178232
ExAC:
8:48701786 A / T
gnomAD v2:
8-48701786-A-T
gnomAD v3:
8-47789225-A-T
gnomAD v4:
8-47789225-A-T
COSMIC:
COSM3685397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47789225A>T , CM000670.2:g.47789225A>T | GRCh38 |
| NC_000008.10:g.48701786A>T , CM000670.1:g.48701786A>T | GRCh37 |
| NC_000008.9:g.48864339A>T | NCBI36 |
| NG_023435.1:g.175959T>A , LRG_162:g.175959T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697602.1:n.1257T>A | ||
| ENST00000697603.1:c.3361T>A | ENSP00000513358.1:p.Leu1121Met | |
| ENST00000314191.7:c.10684T>A MANE Select | ENSP00000313420.3:p.Leu3562Met | |
| ENST00000314191.6:c.10684T>A | ENSP00000313420.3:p.Leu3562Met | |
| ENST00000338368.7:c.10684T>A | ENSP00000345182.4:p.Leu3562Met | |
| NM_001081640.1:c.10684T>A | NP_001075109.1:p.Leu3562Met | |
| NM_006904.6:c.10684T>A , LRG_162t1:c.10684T>A | NP_008835.5:p.Leu3562Met | |
| XM_011517567.1:c.10687T>A | XP_011515869.1:p.Leu3563Met | |
| XM_011517568.1:c.10687T>A | XP_011515870.1:p.Leu3563Met | |
| NM_001081640.2:c.10684T>A | NP_001075109.1:p.Leu3562Met | |
| NM_006904.7:c.10684T>A MANE Select | NP_008835.5:p.Leu3562Met |