Linked Data
ClinVar Variation Id:
55998
dbSNP Id:
rs386833480
ExAC:
7:107431677 G / A
gnomAD v2:
7-107431677-G-A
gnomAD v3:
7-107791232-G-A
gnomAD v4:
7-107791232-G-A
PubMed:
PMID:21394828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107791232G>A , CM000669.2:g.107791232G>A | GRCh38 |
| NC_000007.13:g.107431677G>A , CM000669.1:g.107431677G>A | GRCh37 |
| NC_000007.12:g.107218913G>A | NCBI36 |
| NG_008046.1:g.17002C>T , LRG_683:g.17002C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.386C>T MANE Select | ENSP00000345873.5:p.Pro129Leu | |
| ENST00000340010.9:c.386C>T | ENSP00000345873.5:p.Pro129Leu | |
| ENST00000379083.7:c.*177C>T | ENSP00000368375.3:n.*177C>T | |
| NM_000111.2:c.386C>T , LRG_683t1:c.386C>T | NP_000102.1:p.Pro129Leu | |
| XM_011515867.1:c.386C>T | XP_011514169.1:p.Pro129Leu | |
| NM_000111.3:c.386C>T MANE Select | NP_000102.1:p.Pro129Leu |