Linked Data
ClinVar Variation Id:
2966146
ClinVar RCV Id:
RCV003820760
dbSNP Id:
rs1315237463
gnomAD v2:
11-118210515-T-G
gnomAD v4:
11-118339800-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339800T>G , CM000673.2:g.118339800T>G | GRCh38 |
| NC_000011.9:g.118210515T>G , CM000673.1:g.118210515T>G | GRCh37 |
| NC_000011.8:g.117715725T>G | NCBI36 |
| NG_007566.1:g.457T>G , LRG_39:g.457T>G | |
| NG_009891.1:g.7945A>C , LRG_37:g.7945A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.868A>C | ||
| ENST00000695667.1:n.386A>C | ||
| ENST00000695668.1:n.2366A>C | ||
| ENST00000300692.9:c.381A>C MANE Select | ENSP00000300692.4:p.Gly127= | |
| ENST00000300692.8:c.381A>C | ENSP00000300692.4:p.Gly127= | |
| ENST00000392884.2:c.275-306A>C | ENSP00000376622.2:n.275-306A>C | |
| ENST00000526561.1:n.80-306A>C | ||
| ENST00000529594.5:c.162A>C | ENSP00000437335.1:p.Gly54= | |
| ENST00000534687.5:c.288-306A>C | ||
| NM_000732.4:c.381A>C , LRG_37t1:c.381A>C | NP_000723.1:p.Gly127= | |
| NM_001040651.1:c.275-306A>C | NP_001035741.1:n.275-306A>C | |
| NM_001040651.2:c.275-306A>C | NP_001035741.1:n.275-306A>C | |
| NM_000732.6:c.381A>C MANE Select | NP_000723.1:p.Gly127= |