Linked Data
dbSNP Id:
rs2244305
gnomAD v2:
21-34652958-C-T
gnomAD v3:
21-33280653-C-T
gnomAD v4:
21-33280653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33280653C>T , CM000683.2:g.33280653C>T | GRCh38 |
| NC_000021.8:g.34652958C>T , CM000683.1:g.34652958C>T | GRCh37 |
| NC_000021.7:g.33574828C>T | NCBI36 |
| NG_012089.1:g.19287C>T , LRG_152:g.19287C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433395.7:c.1158+735C>T | ENSP00000388223.3:n.1158+735C>T | |
| ENST00000609556.3:c.498+735C>T | ENSP00000489965.2:n.498+735C>T | |
| ENST00000637650.2:c.498+735C>T | ENSP00000489716.2:n.498+735C>T | |
| ENST00000696764.1:n.551+735C>T | ||
| ENST00000696765.1:n.208-2441C>T | ||
| ENST00000682009.1:c.*608+735C>T | ENSP00000506919.1:n.*608+735C>T | |
| ENST00000683116.1:c.*750+735C>T | ENSP00000508125.1:n.*750+735C>T | |
| ENST00000290200.7:c.498+735C>T MANE Select | ENSP00000290200.2:n.498+735C>T | |
| ENST00000646150.1:c.*586+735C>T | ENSP00000496248.1:n.*586+735C>T | |
| ENST00000290200.6:c.498+735C>T | ENSP00000290200.2:n.498+735C>T | |
| ENST00000422891.5:c.*124+735C>T | ENSP00000414682.1:n.*124+735C>T | |
| ENST00000432231.1:c.634+735C>T | ||
| ENST00000433395.6:c.881+735C>T | ||
| ENST00000451065.1:c.309+735C>T | ENSP00000397611.1:n.309+735C>T | |
| ENST00000493295.5:n.915+735C>T | ||
| ENST00000498371.1:n.403+735C>T | ||
| NM_000628.4:c.498+735C>T | NP_000619.3:n.498+735C>T | |
| NM_000628.5:c.498+735C>T MANE Select | NP_000619.3:n.498+735C>T |