Linked Data
ClinVar Variation Id:
184865
ClinVar RCV Id:
RCV003477606
dbSNP Id:
rs758726687
ExAC:
2:96920692 G / A
gnomAD v2:
2-96920692-G-A
gnomAD v3:
2-96254954-G-A
gnomAD v4:
2-96254954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254954G>A , CM000664.2:g.96254954G>A | GRCh38 |
| NC_000002.11:g.96920692G>A , CM000664.1:g.96920692G>A | GRCh37 |
| NC_000002.10:g.96284419G>A | NCBI36 |
| NG_027695.1:g.16060C>T , LRG_528:g.16060C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.288C>T MANE Select | ENSP00000258439.3:p.Ile96= | |
| ENST00000258439.7:c.288C>T | ENSP00000258439.2:p.Ile96= | |
| ENST00000432959.1:c.288C>T | ENSP00000416660.1:p.Ile96= | |
| ENST00000435268.1:c.36C>T | ENSP00000411810.1:p.Ile12= | |
| NM_001193304.2:c.288C>T | NP_001180233.1:p.Ile96= | |
| NM_017849.3:c.288C>T , LRG_528t1:c.288C>T | NP_060319.1:p.Ile96= | |
| XM_017004450.1:c.-631C>T | XP_016859939.1:n.-631C>T | |
| XM_017004452.1:c.36C>T | XP_016859941.1:p.Ile12= | |
| NM_001193304.3:c.288C>T | NP_001180233.1:p.Ile96= | |
| NM_017849.4:c.288C>T MANE Select | NP_060319.1:p.Ile96= |