Linked Data
dbSNP Id:
rs1243907193
gnomAD v2:
11-118210548-C-T
gnomAD v3:
11-118339833-C-T
gnomAD v4:
11-118339833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339833C>T , CM000673.2:g.118339833C>T | GRCh38 |
| NC_000011.9:g.118210548C>T , CM000673.1:g.118210548C>T | GRCh37 |
| NC_000011.8:g.117715758C>T | NCBI36 |
| NG_007566.1:g.490C>T , LRG_39:g.490C>T | |
| NG_009891.1:g.7912G>A , LRG_37:g.7912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.835G>A | ||
| ENST00000695667.1:n.353G>A | ||
| ENST00000695668.1:n.2333G>A | ||
| ENST00000300692.9:c.348G>A MANE Select | ENSP00000300692.4:p.Leu116= | |
| ENST00000300692.8:c.348G>A | ENSP00000300692.4:p.Leu116= | |
| ENST00000392884.2:c.275-339G>A | ENSP00000376622.2:n.275-339G>A | |
| ENST00000526561.1:n.80-339G>A | ||
| ENST00000529594.5:c.129G>A | ENSP00000437335.1:p.Leu43= | |
| ENST00000534687.5:c.288-339G>A | ||
| NM_000732.4:c.348G>A , LRG_37t1:c.348G>A | NP_000723.1:p.Leu116= | |
| NM_001040651.1:c.275-339G>A | NP_001035741.1:n.275-339G>A | |
| NM_001040651.2:c.275-339G>A | NP_001035741.1:n.275-339G>A | |
| NM_000732.6:c.348G>A MANE Select | NP_000723.1:p.Leu116= |