Linked Data
ClinVar Variation Id:
316721
ClinVar RCV Id:
RCV000270080
dbSNP Id:
rs746913301
ExAC:
15:65267032 T / C
gnomAD v2:
15-65267032-T-C
gnomAD v3:
15-64974694-T-C
gnomAD v4:
15-64974694-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64974694T>C , CM000677.2:g.64974694T>C | GRCh38 |
| NC_000015.9:g.65267032T>C , CM000677.1:g.65267032T>C | GRCh37 |
| NC_000015.8:g.63054085T>C | NCBI36 |
| NG_008992.2:g.20220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204566.7:c.360A>G MANE Select | ENSP00000204566.2:p.Glu120= | |
| ENST00000204566.6:c.360A>G | ENSP00000204566.2:p.Glu120= | |
| ENST00000416889.6:c.279A>G | ENSP00000394846.2:p.Glu93= | |
| ENST00000433215.6:c.360A>G | ENSP00000404111.2:p.Glu120= | |
| ENST00000557795.5:c.360A>G | ENSP00000453541.1:p.Glu120= | |
| ENST00000558765.5:c.360A>G | ENSP00000452728.1:p.Glu120= | |
| ENST00000559199.5:c.-103A>G | ENSP00000456365.1:n.-103A>G | |
| ENST00000560564.1:n.579A>G | ||
| ENST00000561078.5:c.306+1781A>G | ENSP00000452865.1:n.306+1781A>G | |
| NM_001127889.4:c.360A>G | NP_001121361.1:p.Glu120= | |
| NM_001127890.4:c.279A>G | NP_001121362.1:p.Glu93= | |
| NM_016630.6:c.360A>G | NP_057714.1:p.Glu120= | |
| XM_005254436.3:c.360A>G | XP_005254493.1:p.Glu120= | |
| XM_005254437.3:c.360A>G | XP_005254494.1:p.Glu120= | |
| XM_006720564.2:c.360A>G | XP_006720627.1:p.Glu120= | |
| XM_011521662.1:c.360A>G | XP_011519964.1:p.Glu120= | |
| XM_005254437.4:c.360A>G | XP_005254494.1:p.Glu120= | |
| XM_017022297.1:c.360A>G | XP_016877786.1:p.Glu120= | |
| XM_017022298.1:c.360A>G | XP_016877787.1:p.Glu120= | |
| NM_016630.7:c.360A>G MANE Select | NP_057714.1:p.Glu120= | |
| NM_001127889.5:c.360A>G | NP_001121361.1:p.Glu120= | |
| NM_001127890.5:c.279A>G | NP_001121362.1:p.Glu93= |