Linked Data
dbSNP Id:
rs775804959
ExAC:
8:118847749 C / T
gnomAD v2:
8-118847749-C-T
gnomAD v4:
8-117835510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835510C>T , CM000670.2:g.117835510C>T | GRCh38 |
| NC_000008.10:g.118847749C>T , CM000670.1:g.118847749C>T | GRCh37 |
| NC_000008.9:g.118916930C>T | NCBI36 |
| NG_007455.2:g.281310G>A , LRG_493:g.281310G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.565G>A | ||
| ENST00000378204.7:c.1098G>A MANE Select | ENSP00000367446.3:p.Leu366= | |
| ENST00000436216.2:c.466G>A | ||
| ENST00000378204.6:c.1098G>A | ENSP00000367446.2:p.Leu366= | |
| ENST00000436216.1:c.466G>A | ||
| ENST00000437196.1:c.115G>A | ENSP00000407299.1:p.Ala39Thr | |
| NM_000127.2:c.1098G>A , LRG_493t1:c.1098G>A | NP_000118.2:p.Leu366= | |
| NM_000127.3:c.1098G>A MANE Select | NP_000118.2:p.Leu366= |