Linked Data
dbSNP Id:
rs1196851
gnomAD v2:
12-105583245-G-A
gnomAD v3:
12-105189467-G-A
gnomAD v4:
12-105189467-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189467G>A , CM000674.2:g.105189467G>A | GRCh38 |
| NC_000012.11:g.105583245G>A , CM000674.1:g.105583245G>A | GRCh37 |
| NC_000012.10:g.104107375G>A | NCBI36 |
| NG_030419.1:g.51764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258530.8:c.1459+305C>T MANE Select | ENSP00000258530.3:n.1459+305C>T | |
| ENST00000258530.7:c.1459+305C>T | ENSP00000258530.3:n.1459+305C>T | |
| ENST00000539978.6:c.1330+305C>T | ENSP00000444472.2:n.1330+305C>T | |
| ENST00000547439.5:c.*744+305C>T | ENSP00000449410.1:n.*744+305C>T | |
| ENST00000547809.5:n.1469+305C>T | ||
| ENST00000551662.5:c.1477+305C>T | ENSP00000446917.1:n.1477+305C>T | |
| ENST00000552945.1:n.299+305C>T | ||
| ENST00000553109.1:c.103+305C>T | ENSP00000446510.1:n.103+305C>T | |
| NM_001251904.1:c.1477+305C>T | NP_001238833.1:n.1477+305C>T | |
| NM_001251905.1:c.1330+305C>T | NP_001238834.1:n.1330+305C>T | |
| NM_018171.3:c.1459+305C>T | NP_060641.2:n.1459+305C>T | |
| XM_006719472.1:c.1477+305C>T | XP_006719535.1:n.1477+305C>T | |
| XM_011538530.1:c.1438+305C>T | XP_011536832.1:n.1438+305C>T | |
| XM_011538531.1:c.1348+305C>T | XP_011536833.1:n.1348+305C>T | |
| XM_011538532.1:c.1348+305C>T | XP_011536834.1:n.1348+305C>T | |
| XM_011538530.3:c.1438+305C>T | XP_011536832.1:n.1438+305C>T | |
| XM_011538531.3:c.1348+305C>T | XP_011536833.1:n.1348+305C>T | |
| XM_011538532.3:c.1348+305C>T | XP_011536834.1:n.1348+305C>T | |
| XM_017019551.2:c.1420+305C>T | XP_016875040.1:n.1420+305C>T | |
| XM_017019552.2:c.1330+305C>T | XP_016875041.1:n.1330+305C>T | |
| XM_017019553.2:c.1330+305C>T | XP_016875042.1:n.1330+305C>T | |
| XM_017019554.1:c.1459+305C>T | XP_016875043.1:n.1459+305C>T | |
| XR_001748795.1:n.1639+305C>T | ||
| XR_001748796.1:n.1621+305C>T | ||
| NM_018171.4:c.1459+305C>T | NP_060641.2:n.1459+305C>T | |
| NM_018171.5:c.1459+305C>T MANE Select | NP_060641.2:n.1459+305C>T | |
| NM_001251904.2:c.1477+305C>T | NP_001238833.1:n.1477+305C>T | |
| NM_001251905.2:c.1330+305C>T | NP_001238834.1:n.1330+305C>T |