Linked Data
dbSNP Id:
rs1639194200
gnomAD v4:
1-23848708-C-T
MyVariant Identifiers:
chr1:g.24175198C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848708C>T , CM000663.2:g.23848708C>T | GRCh38 |
| NC_000001.10:g.24175198C>T , CM000663.1:g.24175198C>T | GRCh37 |
| NC_000001.9:g.24047785C>T | NCBI36 |
| NG_013346.1:g.24662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1101G>A MANE Select | ENSP00000363603.3:p.Glu367= | |
| ENST00000374479.3:c.1101G>A | ENSP00000363603.3:p.Glu367= | |
| NM_000147.4:c.1101G>A | NP_000138.2:p.Glu367= | |
| XM_005245821.1:c.726G>A | XP_005245878.1:p.Glu242= | |
| XM_011541167.1:c.468G>A | XP_011539469.1:p.Glu156= | |
| XM_005245821.3:c.726G>A | XP_005245878.1:p.Glu242= | |
| XM_011541167.3:c.468G>A | XP_011539469.1:p.Glu156= | |
| XM_017000905.2:c.798G>A | XP_016856394.1:p.Glu266= | |
| NM_000147.5:c.1101G>A MANE Select | NP_000138.2:p.Glu367= | |
| NR_174379.1:n.1279G>A | ||
| NR_174380.1:n.1328G>A | ||
| NR_174381.1:n.1167G>A | ||
| NR_174382.1:n.1564G>A |