Linked Data
dbSNP Id:
rs7974925
gnomAD v2:
12-117960736-G-A
gnomAD v3:
12-117522931-G-A
gnomAD v4:
12-117522931-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117522931G>A , CM000674.2:g.117522931G>A | GRCh38 |
| NC_000012.11:g.117960736G>A , CM000674.1:g.117960736G>A | GRCh37 |
| NC_000012.10:g.116445119G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339824.7:c.2219+1921C>T MANE Select | ENSP00000339952.4:n.2219+1921C>T | |
| ENST00000339824.6:c.2219+1921C>T | ENSP00000339952.4:n.2219+1921C>T | |
| ENST00000425217.5:c.2132+1921C>T | ENSP00000389715.1:n.2132+1921C>T | |
| ENST00000545002.1:n.1365+1921C>T | ||
| NM_173598.4:c.2132+1921C>T | NP_775869.3:n.2132+1921C>T | |
| XM_011538224.1:c.2213+1921C>T | XP_011536526.1:n.2213+1921C>T | |
| XM_011538225.1:c.1856+1921C>T | XP_011536527.1:n.1856+1921C>T | |
| XM_011538226.1:c.2219+1921C>T | XP_011536528.1:n.2219+1921C>T | |
| XM_011538227.1:c.1355+1921C>T | XP_011536529.1:n.1355+1921C>T | |
| XM_011538228.1:c.1310+1921C>T | XP_011536530.1:n.1310+1921C>T | |
| XM_011538230.1:c.959+1921C>T | XP_011536532.1:n.959+1921C>T | |
| XR_944522.1:n.3053+1921C>T | ||
| XM_011538224.3:c.2213+1921C>T | XP_011536526.1:n.2213+1921C>T | |
| XM_011538225.3:c.1856+1921C>T | XP_011536527.1:n.1856+1921C>T | |
| XM_011538226.3:c.2219+1921C>T | XP_011536528.1:n.2219+1921C>T | |
| XM_017019208.2:c.2219+1921C>T | XP_016874697.1:n.2219+1921C>T | |
| XM_017019210.2:c.914+1921C>T | XP_016874699.1:n.914+1921C>T | |
| NM_173598.6:c.2219+1921C>T MANE Select | NP_775869.4:n.2219+1921C>T |