Linked Data
dbSNP Id:
rs533931690
ExAC:
12:33003659 G / A
gnomAD v2:
12-33003659-G-A
gnomAD v3:
12-32850725-G-A
gnomAD v4:
12-32850725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32850725G>A , CM000674.2:g.32850725G>A | GRCh38 |
| NC_000012.11:g.33003659G>A , CM000674.1:g.33003659G>A | GRCh37 |
| NC_000012.10:g.32894926G>A | NCBI36 |
| NG_009000.1:g.51122C>T , LRG_398:g.51122C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1378+41C>T | ENSP00000515065.2:n.1378+41C>T | |
| ENST00000700563.2:c.1378+41C>T | ENSP00000515066.2:n.1378+41C>T | |
| ENST00000700559.1:c.593+41C>T | ||
| ENST00000700560.1:n.593+41C>T | ||
| ENST00000700561.1:n.719+41C>T | ||
| ENST00000700563.1:c.1332+41C>T | ||
| ENST00000700564.1:n.1382+41C>T | ||
| ENST00000700565.1:n.1231+41C>T | ||
| ENST00000070846.11:c.1378+41C>T | ENSP00000070846.6:n.1378+41C>T | |
| ENST00000340811.9:c.1378+41C>T MANE Select | ENSP00000342800.5:n.1378+41C>T | |
| ENST00000070846.10:c.1378+41C>T | ENSP00000070846.6:n.1378+41C>T | |
| ENST00000340811.8:c.1378+41C>T | ENSP00000342800.4:n.1378+41C>T | |
| ENST00000613243.1:c.1378+41C>T | ENSP00000478295.1:n.1378+41C>T | |
| NM_001005242.2:c.1378+41C>T | NP_001005242.2:n.1378+41C>T | |
| NM_004572.3:c.1378+41C>T , LRG_398t1:c.1378+41C>T | NP_004563.2:n.1378+41C>T | |
| NM_001005242.3:c.1378+41C>T MANE Select | NP_001005242.2:n.1378+41C>T | |
| NM_004572.4:c.1378+41C>T | NP_004563.2:n.1378+41C>T |