Linked Data
dbSNP Id:
rs2734414
gnomAD v2:
12-10598802-A-T
gnomAD v3:
12-10446203-A-T
gnomAD v4:
12-10446203-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10446203A>T , CM000674.2:g.10446203A>T | GRCh38 |
| NC_000012.11:g.10598802A>T , CM000674.1:g.10598802A>T | GRCh37 |
| NC_000012.10:g.10490069A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359151.8:c.*348T>A MANE Select | ENSP00000352064.3:n.*348T>A | |
| ENST00000347831.9:c.*348T>A | ENSP00000256965.7:n.*348T>A | |
| ENST00000359151.7:c.*348T>A | ENSP00000352064.3:n.*348T>A | |
| ENST00000408006.7:c.*348T>A | ENSP00000385304.3:n.*348T>A | |
| ENST00000536188.5:c.685+365T>A | ENSP00000441432.1:n.685+365T>A | |
| ENST00000544822.2:c.*348T>A | ENSP00000438038.1:n.*348T>A | |
| NM_001304448.1:c.685+365T>A | NP_001291377.1:n.685+365T>A | |
| NM_002259.4:c.*348T>A | NP_002250.1:n.*348T>A | |
| NM_007328.3:c.*348T>A | NP_015567.1:n.*348T>A | |
| NM_213657.2:c.*348T>A | NP_998822.1:n.*348T>A | |
| NM_213658.2:c.*348T>A | NP_998823.1:n.*348T>A | |
| XM_024448973.1:c.685+365T>A | XP_024304741.1:n.685+365T>A | |
| NM_002259.5:c.*348T>A MANE Select | NP_002250.2:n.*348T>A | |
| NM_007328.4:c.*348T>A | NP_015567.2:n.*348T>A | |
| NM_213657.3:c.*348T>A | NP_998822.2:n.*348T>A | |
| NM_213658.3:c.*348T>A | NP_998823.2:n.*348T>A |