Linked Data
ClinVar Variation Id:
1540041
ClinVar RCV Id:
RCV002169765
dbSNP Id:
rs2131320143
MyVariant Identifiers:
chr7:g.100230693C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633070C>G , CM000669.2:g.100633070C>G | GRCh38 |
| NC_000007.13:g.100230693C>G , CM000669.1:g.100230693C>G | GRCh37 |
| NC_000007.12:g.100068629C>G | NCBI36 |
| NG_007989.1:g.13481G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.780G>C MANE Select | ENSP00000223051.3:p.Arg260= | |
| ENST00000223051.7:c.780G>C | ENSP00000223051.3:p.Arg260= | |
| ENST00000431692.5:c.780G>C | ENSP00000413905.1:p.Arg260= | |
| ENST00000462090.5:n.21G>C | ||
| ENST00000462107.1:c.780G>C | ENSP00000420525.1:p.Arg260= | |
| ENST00000465294.5:n.785G>C | ||
| ENST00000473374.5:n.230G>C | ||
| ENST00000473571.1:n.234G>C | ||
| ENST00000475011.1:n.309G>C | ||
| ENST00000476304.5:n.401G>C | ||
| ENST00000490084.5:c.35G>C | ||
| NM_001206855.1:c.267G>C | NP_001193784.1:p.Arg89= | |
| NM_003227.3:c.780G>C | NP_003218.2:p.Arg260= | |
| XM_005250553.3:c.780G>C | XP_005250610.1:p.Arg260= | |
| XM_005250554.3:c.780G>C | XP_005250611.1:p.Arg260= | |
| NM_001206855.2:c.267G>C | NP_001193784.1:p.Arg89= | |
| XM_005250553.4:c.780G>C | XP_005250610.1:p.Arg260= | |
| XM_017012573.1:c.780G>C | XP_016868062.1:p.Arg260= | |
| NM_003227.4:c.780G>C MANE Select | NP_003218.2:p.Arg260= | |
| NM_001206855.3:c.267G>C | NP_001193784.1:p.Arg89= |