Linked Data
dbSNP Id:
rs2074192
gnomAD v2:
X-15582790-C-T
gnomAD v3:
X-15564667-C-T
gnomAD v4:
X-15564667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15564667C>T , CM000685.2:g.15564667C>T | GRCh38 |
| NC_000023.10:g.15582790C>T , CM000685.1:g.15582790C>T | GRCh37 |
| NC_000023.9:g.15492711C>T | NCBI36 |
| NG_012575.1:g.42403G>A | |
| NG_012575.2:g.42492G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252519.8:c.2115-449G>A MANE Select | ENSP00000252519.3:n.2115-449G>A | |
| ENST00000427411.2:c.2115-449G>A | ENSP00000389326.1:n.2115-449G>A | |
| ENST00000649243.1:c.*1860-449G>A | ENSP00000497489.1:n.*1860-449G>A | |
| ENST00000677282.1:c.1077-449G>A | ENSP00000504747.1:n.1077-449G>A | |
| ENST00000678046.1:c.2115-449G>A | ENSP00000502872.1:n.2115-449G>A | |
| ENST00000678073.1:c.2115-449G>A | ENSP00000504103.1:n.2115-449G>A | |
| ENST00000679162.1:c.2115-449G>A | ENSP00000503771.1:n.2115-449G>A | |
| ENST00000679212.1:c.2115-449G>A | ENSP00000503558.1:n.2115-449G>A | |
| ENST00000679278.1:c.2115-449G>A | ENSP00000504010.1:n.2115-449G>A | |
| ENST00000680121.1:c.2115-449G>A | ENSP00000505992.1:n.2115-449G>A | |
| ENST00000252519.7:c.2115-449G>A | ENSP00000252519.3:n.2115-449G>A | |
| ENST00000427411.1:c.2115-449G>A | ENSP00000389326.1:n.2115-449G>A | |
| ENST00000471548.5:n.36-449G>A | ||
| ENST00000473851.1:n.458-449G>A | ||
| NM_021804.2:c.2115-449G>A | NP_068576.1:n.2115-449G>A | |
| XM_011545549.1:c.2115-449G>A | XP_011543851.1:n.2115-449G>A | |
| XM_011545550.1:c.2115-449G>A | XP_011543852.1:n.2115-449G>A | |
| XM_011545551.1:c.2115-449G>A | XP_011543853.1:n.2115-449G>A | |
| XM_011545552.1:c.1782-449G>A | XP_011543854.1:n.1782-449G>A | |
| XM_011545549.2:c.2115-449G>A | XP_011543851.1:n.2115-449G>A | |
| XM_011545551.3:c.2115-449G>A | XP_011543853.1:n.2115-449G>A | |
| XM_011545552.2:c.1782-449G>A | XP_011543854.1:n.1782-449G>A | |
| NM_001371415.1:c.2115-449G>A MANE Select | NP_001358344.1:n.2115-449G>A | |
| NM_021804.3:c.2115-449G>A | NP_068576.1:n.2115-449G>A | |
| NM_001386259.1:c.2115-449G>A | NP_001373188.1:n.2115-449G>A | |
| NM_001386260.1:c.1782-449G>A | NP_001373189.1:n.1782-449G>A | |
| NM_001388452.1:c.1077-449G>A | NP_001375381.1:n.1077-449G>A | |
| NM_001389402.1:c.1782-449G>A | NP_001376331.1:n.1782-449G>A |