Linked Data
ClinVar Variation Id:
317370
ClinVar RCV Id:
RCV000338853
dbSNP Id:
rs886051536
gnomAD v2:
15-90191711-G-C
gnomAD v3:
15-89648480-G-C
gnomAD v4:
15-89648480-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89648480G>C , CM000677.2:g.89648480G>C | GRCh38 |
| NC_000015.9:g.90191711G>C , CM000677.1:g.90191711G>C | GRCh37 |
| NC_000015.8:g.87992715G>C | NCBI36 |
| NG_030338.1:g.11972C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.1341C>G | ENSP00000512678.1:p.Gly447= | |
| ENST00000394412.8:c.1218C>G MANE Select | ENSP00000377934.3:p.Gly406= | |
| ENST00000394412.7:c.1218C>G | ENSP00000377934.3:p.Gly406= | |
| NM_198525.2:c.1218C>G | NP_940927.2:p.Gly406= | |
| XM_005254902.2:c.1218C>G | XP_005254959.1:p.Gly406= | |
| XM_011521531.1:c.1341C>G | XP_011519833.1:p.Gly447= | |
| XM_011521532.1:c.1341C>G | XP_011519834.1:p.Gly447= | |
| XM_011521533.1:c.1341C>G | XP_011519835.1:p.Gly447= | |
| XM_011521534.1:c.1341C>G | XP_011519836.1:p.Gly447= | |
| XM_011521535.1:c.1341C>G | XP_011519837.1:p.Gly447= | |
| XM_011521536.1:c.1341C>G | XP_011519838.1:p.Gly447= | |
| XM_011521537.1:c.1341C>G | XP_011519839.1:p.Gly447= | |
| XM_011521531.2:c.1341C>G | XP_011519833.1:p.Gly447= | |
| NM_198525.3:c.1218C>G MANE Select | NP_940927.2:p.Gly406= |