Linked Data
ClinVar Variation Id:
17929
ClinVar RCV Id:
RCV000019522
dbSNP Id:
rs121912727
PubMed:
PMID:9514407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836073A>T , CM000673.2:g.116836073A>T | GRCh38 |
| NC_000011.9:g.116706789A>T , CM000673.1:g.116706789A>T | GRCh37 |
| NC_000011.8:g.116211999A>T | NCBI36 |
| NG_012021.1:g.6550T>A , LRG_767:g.6550T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236850.5:c.539T>A MANE Select | ENSP00000236850.3:p.Val180Glu | |
| ENST00000236850.4:c.539T>A | ENSP00000236850.3:p.Val180Glu | |
| ENST00000359492.6:c.539T>A | ENSP00000352471.2:p.Val180Glu | |
| ENST00000375320.5:c.539T>A | ENSP00000364469.1:p.Val180Glu | |
| ENST00000375323.5:c.539T>A | ENSP00000364472.1:p.Val180Glu | |
| ENST00000375329.6:c.473T>A | ENSP00000364478.2:p.Val158Glu | |
| NM_000039.1:c.539T>A , LRG_767t1:c.539T>A | NP_000030.1:p.Val180Glu | |
| XM_005271539.2:c.539T>A | XP_005271596.1:p.Val180Glu | |
| XM_005271540.1:c.539T>A | XP_005271597.1:p.Val180Glu | |
| NM_000039.2:c.539T>A | NP_000030.1:p.Val180Glu | |
| NM_001318017.1:c.539T>A | NP_001304946.1:p.Val180Glu | |
| NM_001318018.1:c.539T>A | NP_001304947.1:p.Val180Glu | |
| NM_001318021.1:c.212T>A | NP_001304950.1:p.Val71Glu | |
| NM_001318017.2:c.539T>A | NP_001304946.1:p.Val180Glu | |
| NM_001318018.2:c.539T>A | NP_001304947.1:p.Val180Glu | |
| NM_000039.3:c.539T>A MANE Select | NP_000030.1:p.Val180Glu |