Linked Data
dbSNP Id:
rs12267418
gnomAD v2:
10-19714554-G-A
gnomAD v3:
10-19425625-G-A
gnomAD v4:
10-19425625-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.19425625G>A , CM000672.2:g.19425625G>A | GRCh38 |
| NC_000010.10:g.19714554G>A , CM000672.1:g.19714554G>A | GRCh37 |
| NC_000010.9:g.19754560G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454679.7:c.4846-24682G>A MANE Select | ENSP00000412763.3:n.4846-24682G>A | |
| ENST00000377266.7:c.2952+36016G>A | ENSP00000366477.3:n.2952+36016G>A | |
| ENST00000441070.1:c.535-24682G>A | ENSP00000404330.1:n.535-24682G>A | |
| ENST00000454679.6:c.4846-24682G>A | ENSP00000412763.3:n.4846-24682G>A | |
| NM_001142308.2:c.4846-24682G>A | NP_001135780.2:n.4846-24682G>A | |
| XM_011519453.1:c.4906-24682G>A | XP_011517755.1:n.4906-24682G>A | |
| XM_011519454.1:c.4825-24682G>A | XP_011517756.1:n.4825-24682G>A | |
| XM_011519455.1:c.4732-24682G>A | XP_011517757.1:n.4732-24682G>A | |
| XM_011519453.2:c.4906-24682G>A | XP_011517755.1:n.4906-24682G>A | |
| XM_011519455.2:c.4732-24682G>A | XP_011517757.1:n.4732-24682G>A | |
| XM_017016182.1:c.4633-24682G>A | XP_016871671.1:n.4633-24682G>A | |
| XM_017016183.1:c.4906-24682G>A | XP_016871672.1:n.4906-24682G>A | |
| XM_017016184.1:c.3106-24682G>A | XP_016871673.1:n.3106-24682G>A | |
| XM_017016185.1:c.3106-24682G>A | XP_016871674.1:n.3106-24682G>A | |
| XM_017016186.1:c.1648-24682G>A | XP_016871675.1:n.1648-24682G>A | |
| XR_001747102.1:n.5554-24682G>A | ||
| NM_001142308.3:c.4846-24682G>A MANE Select | NP_001135780.2:n.4846-24682G>A |