Linked Data
ClinVar Variation Id:
2832936
ClinVar RCV Id:
RCV003752037
MyVariant Identifiers:
chr7:g.100225016C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100627393C>G , CM000669.2:g.100627393C>G | GRCh38 |
| NC_000007.13:g.100225016C>G , CM000669.1:g.100225016C>G | GRCh37 |
| NC_000007.12:g.100062952C>G | NCBI36 |
| NG_007989.1:g.19158G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.1866G>C MANE Select | ENSP00000223051.3:p.Val622= | |
| ENST00000223051.7:c.1866G>C | ENSP00000223051.3:p.Val622= | |
| ENST00000431692.5:c.*541G>C | ENSP00000413905.1:n.*541G>C | |
| ENST00000461176.1:n.212G>C | ||
| ENST00000462090.5:n.902G>C | ||
| ENST00000462107.1:c.1866G>C | ENSP00000420525.1:p.Val622= | |
| ENST00000465294.5:n.1786G>C | ||
| ENST00000476304.5:n.1487G>C | ||
| ENST00000490084.5:c.1219G>C | ||
| NM_001206855.1:c.1353G>C | NP_001193784.1:p.Val451= | |
| NM_003227.3:c.1866G>C | NP_003218.2:p.Val622= | |
| XM_005250553.3:c.1866G>C | XP_005250610.1:p.Val622= | |
| XM_005250554.3:c.1866G>C | XP_005250611.1:p.Val622= | |
| XR_927814.1:n.434-3763C>G | ||
| NM_001206855.2:c.1353G>C | NP_001193784.1:p.Val451= | |
| XM_005250553.4:c.1866G>C | XP_005250610.1:p.Val622= | |
| XM_017012573.1:c.1866G>C | XP_016868062.1:p.Val622= | |
| NM_003227.4:c.1866G>C MANE Select | NP_003218.2:p.Val622= | |
| NM_001206855.3:c.1353G>C | NP_001193784.1:p.Val451= |