Linked Data
dbSNP Id:
rs2414059
gnomAD v2:
15-50873344-T-A
gnomAD v3:
15-50581147-T-A
gnomAD v4:
15-50581147-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50581147T>A , CM000677.2:g.50581147T>A | GRCh38 |
| NC_000015.9:g.50873344T>A , CM000677.1:g.50873344T>A | GRCh37 |
| NC_000015.8:g.48660636T>A | NCBI36 |
| NG_021363.1:g.110669A>T | |
| NG_021363.2:g.110669A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646667.1:c.4558-239A>T MANE Select | ENSP00000495860.1:n.4558-239A>T | |
| ENST00000313478.11:c.4558-239A>T | ENSP00000320239.7:n.4558-239A>T | |
| ENST00000558444.5:n.31-239A>T | ||
| ENST00000560849.2:n.260-239A>T | ||
| ENST00000560955.5:c.4555-239A>T | ENSP00000453277.1:n.4555-239A>T | |
| ENST00000561443.5:n.36-239A>T | ||
| NM_001301212.1:c.4555-239A>T | NP_001288141.1:n.4555-239A>T | |
| NM_017672.5:c.4558-239A>T | NP_060142.3:n.4558-239A>T | |
| XM_005254486.2:c.4618-239A>T | XP_005254543.1:n.4618-239A>T | |
| XM_005254487.2:c.4615-239A>T | XP_005254544.1:n.4615-239A>T | |
| XR_931853.1:n.4900-239A>T | ||
| NR_149152.1:n.4790-239A>T | ||
| NR_149153.1:n.4713-239A>T | ||
| NR_149154.1:n.4640-239A>T | ||
| XM_005254486.4:c.4618-239A>T | XP_005254543.1:n.4618-239A>T | |
| XM_017022350.1:c.4645-239A>T | XP_016877839.1:n.4645-239A>T | |
| XM_017022351.1:c.4642-239A>T | XP_016877840.1:n.4642-239A>T | |
| XM_017022352.1:c.4585-239A>T | XP_016877841.1:n.4585-239A>T | |
| XM_017022353.2:c.4582-239A>T | XP_016877842.1:n.4582-239A>T | |
| XM_017022354.1:c.4441-239A>T | XP_016877843.1:n.4441-239A>T | |
| XM_017022355.1:c.4441-239A>T | XP_016877844.1:n.4441-239A>T | |
| XR_001751325.1:n.4660-239A>T | ||
| XR_001751326.2:n.4660-205A>T | ||
| XR_001751327.1:n.4660-205A>T | ||
| XR_001751328.2:n.4657-205A>T | ||
| NM_017672.6:c.4558-239A>T MANE Select | NP_060142.3:n.4558-239A>T | |
| NM_001301212.2:c.4555-239A>T | NP_001288141.1:n.4555-239A>T | |
| NR_149152.2:n.4772-239A>T | ||
| NR_149153.2:n.4695-239A>T | ||
| NR_149154.2:n.4622-239A>T |