Linked Data
ClinVar Variation Id:
2066869
ClinVar RCV Id:
RCV002943611
gnomAD v4:
6-98875620-T-C
MyVariant Identifiers:
chr6:g.99323496T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98875620T>C , CM000668.2:g.98875620T>C | GRCh38 |
| NC_000006.11:g.99323496T>C , CM000668.1:g.99323496T>C | GRCh37 |
| NC_000006.10:g.99430217T>C | NCBI36 |
| NG_033903.1:g.77387A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.1497A>G MANE Select | ENSP00000358247.1:p.Glu499= | |
| ENST00000229971.2:c.1497A>G | ENSP00000229971.1:p.Glu499= | |
| ENST00000369244.6:c.1497A>G | ENSP00000358247.1:p.Glu499= | |
| NM_001278716.1:c.1497A>G | NP_001265645.1:p.Glu499= | |
| NM_012160.4:c.1497A>G | NP_036292.2:p.Glu499= | |
| NR_103836.1:n.1542A>G | ||
| XM_005266930.1:c.1425A>G | XP_005266987.1:p.Glu475= | |
| XM_005266930.3:c.1425A>G | XP_005266987.1:p.Glu475= | |
| XM_017010726.1:c.1497A>G | XP_016866215.1:p.Glu499= | |
| XM_017010727.2:c.1425A>G | XP_016866216.1:p.Glu475= | |
| XM_017010728.1:c.771A>G | XP_016866217.1:p.Glu257= | |
| NM_001278716.2:c.1497A>G MANE Select | NP_001265645.1:p.Glu499= | |
| NR_103836.2:n.1482A>G | ||
| NM_012160.5:c.1497A>G | NP_036292.2:p.Glu499= |