Linked Data
ClinVar Variation Id:
2731570
ClinVar RCV Id:
RCV003497283
dbSNP Id:
rs1326350955
gnomAD v2:
1-24175119-C-T
gnomAD v3:
1-23848629-C-T
gnomAD v4:
1-23848629-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848629C>T , CM000663.2:g.23848629C>T | GRCh38 |
| NC_000001.10:g.24175119C>T , CM000663.1:g.24175119C>T | GRCh37 |
| NC_000001.9:g.24047706C>T | NCBI36 |
| NG_013346.1:g.24741G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1160+20G>A MANE Select | ENSP00000363603.3:n.1160+20G>A | |
| ENST00000374479.3:c.1160+20G>A | ENSP00000363603.3:n.1160+20G>A | |
| NM_000147.4:c.1160+20G>A | NP_000138.2:n.1160+20G>A | |
| XM_005245821.1:c.785+20G>A | XP_005245878.1:n.785+20G>A | |
| XM_011541167.1:c.527+20G>A | XP_011539469.1:n.527+20G>A | |
| XM_005245821.3:c.785+20G>A | XP_005245878.1:n.785+20G>A | |
| XM_011541167.3:c.527+20G>A | XP_011539469.1:n.527+20G>A | |
| XM_017000905.2:c.857+20G>A | XP_016856394.1:n.857+20G>A | |
| NM_000147.5:c.1160+20G>A MANE Select | NP_000138.2:n.1160+20G>A | |
| NR_174379.1:n.1338+20G>A | ||
| NR_174380.1:n.1387+20G>A | ||
| NR_174381.1:n.1226+20G>A | ||
| NR_174382.1:n.1623+20G>A |