Linked Data
ClinVar Variation Id:
14777
ClinVar RCV Id:
RCV000015900
dbSNP Id:
rs121912454
PubMed:
PMID:10735277
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31668493T>A , CM000683.2:g.31668493T>A | GRCh38 |
| NC_000021.8:g.33040806T>A , CM000683.1:g.33040806T>A | GRCh37 |
| NC_000021.7:g.31962677T>A | NCBI36 |
| NG_008689.1:g.13872T>A , LRG_652:g.13872T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.380T>A MANE Select | ENSP00000270142.7:p.Leu127Ter | |
| ENST00000270142.10:c.380T>A | ENSP00000270142.6:p.Leu127Ter | |
| ENST00000389995.4:c.323T>A | ENSP00000374645.4:p.Leu108Ter | |
| ENST00000470944.1:n.1308T>A | ||
| NM_000454.4:c.380T>A , LRG_652t1:c.380T>A | NP_000445.1:p.Leu127Ter | |
| NM_000454.5:c.380T>A MANE Select | NP_000445.1:p.Leu127Ter |