Linked Data
dbSNP Id:
rs1338694025
gnomAD v2:
11-1324768-G-A
gnomAD v3:
11-1303538-G-A
gnomAD v4:
11-1303538-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1303538G>A , CM000673.2:g.1303538G>A | GRCh38 |
| NC_000011.9:g.1324768G>A , CM000673.1:g.1324768G>A | GRCh37 |
| NC_000011.8:g.1281344G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317204.11:c.33+5928C>T MANE Select | ENSP00000314733.5:n.33+5928C>T | |
| ENST00000263646.11:c.12+5949C>T | ENSP00000263646.6:n.12+5949C>T | |
| ENST00000317204.10:c.33+5928C>T | ENSP00000314733.5:n.33+5928C>T | |
| ENST00000525159.5:c.33+5928C>T | ENSP00000432668.1:n.33+5928C>T | |
| ENST00000527085.1:n.180-4974C>T | ||
| ENST00000527638.1:n.132+5928C>T | ||
| ENST00000527746.5:n.125+5928C>T | ||
| ENST00000527938.5:c.33+5928C>T | ENSP00000432778.1:n.33+5928C>T | |
| ENST00000530506.5:c.33+5928C>T | ENSP00000436393.1:n.33+5928C>T | |
| ENST00000530541.1:c.33+5928C>T | ENSP00000434494.1:n.33+5928C>T | |
| ENST00000530821.1:n.372+2285C>T | ||
| ENST00000532551.1:n.158+5928C>T | ||
| NM_019009.3:c.33+5928C>T | NP_061882.2:n.33+5928C>T | |
| NM_001318512.1:c.33+5928C>T | NP_001305441.1:n.33+5928C>T | |
| NM_001318515.1:c.33+5928C>T | NP_001305444.1:n.33+5928C>T | |
| NM_001318516.1:c.33+5928C>T | NP_001305445.1:n.33+5928C>T | |
| XR_001747910.2:n.158+5928C>T | ||
| NM_019009.4:c.33+5928C>T MANE Select | NP_061882.2:n.33+5928C>T | |
| NM_001318512.2:c.33+5928C>T | NP_001305441.1:n.33+5928C>T | |
| NM_001318515.2:c.33+5928C>T | NP_001305444.1:n.33+5928C>T | |
| NM_001318516.2:c.33+5928C>T | NP_001305445.1:n.33+5928C>T |