Linked Data
ClinVar Variation Id:
1123578
ClinVar RCV Id:
RCV001454658
dbSNP Id:
rs1803271919
gnomAD v4:
7-100626862-C-T
MyVariant Identifiers:
chr7:g.100224485C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626862C>T , CM000669.2:g.100626862C>T | GRCh38 |
| NC_000007.13:g.100224485C>T , CM000669.1:g.100224485C>T | GRCh37 |
| NC_000007.12:g.100062421C>T | NCBI36 |
| NG_007989.1:g.19689G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.2037G>A MANE Select | ENSP00000223051.3:p.Gly679= | |
| ENST00000223051.7:c.2037G>A | ENSP00000223051.3:p.Gly679= | |
| ENST00000431692.5:c.*712G>A | ENSP00000413905.1:n.*712G>A | |
| ENST00000461176.1:n.383G>A | ||
| ENST00000462090.5:n.1073G>A | ||
| ENST00000462107.1:c.2037G>A | ENSP00000420525.1:p.Gly679= | |
| ENST00000465294.5:n.1957G>A | ||
| ENST00000476304.5:n.1658G>A | ||
| ENST00000490084.5:c.1390G>A | ||
| NM_001206855.1:c.1524G>A | NP_001193784.1:p.Gly508= | |
| NM_003227.3:c.2037G>A | NP_003218.2:p.Gly679= | |
| XM_005250553.3:c.2037G>A | XP_005250610.1:p.Gly679= | |
| XM_005250554.3:c.2037G>A | XP_005250611.1:p.Gly679= | |
| XR_927814.1:n.434-4294C>T | ||
| NM_001206855.2:c.1524G>A | NP_001193784.1:p.Gly508= | |
| XM_005250553.4:c.2037G>A | XP_005250610.1:p.Gly679= | |
| XM_017012573.1:c.2037G>A | XP_016868062.1:p.Gly679= | |
| NM_003227.4:c.2037G>A MANE Select | NP_003218.2:p.Gly679= | |
| NM_001206855.3:c.1524G>A | NP_001193784.1:p.Gly508= |