Linked Data
ClinVar Variation Id:
16755
ClinVar RCV Id:
RCV000018240
dbSNP Id:
rs121913030
gnomAD v4:
7-107791841-T-A
PubMed:
PMID:8896562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107791841T>A , CM000669.2:g.107791841T>A | GRCh38 |
| NC_000007.13:g.107432286T>A , CM000669.1:g.107432286T>A | GRCh37 |
| NC_000007.12:g.107219522T>A | NCBI36 |
| NG_008046.1:g.16393A>T , LRG_683:g.16393A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.371A>T MANE Select | ENSP00000345873.5:p.His124Leu | |
| ENST00000340010.9:c.371A>T | ENSP00000345873.5:p.His124Leu | |
| ENST00000379083.7:c.*162A>T | ENSP00000368375.3:n.*162A>T | |
| NM_000111.2:c.371A>T , LRG_683t1:c.371A>T | NP_000102.1:p.His124Leu | |
| XM_011515867.1:c.371A>T | XP_011514169.1:p.His124Leu | |
| NM_000111.3:c.371A>T MANE Select | NP_000102.1:p.His124Leu |