Linked Data
dbSNP Id:
rs6018256
gnomAD v2:
20-36022154-T-C
gnomAD v3:
20-37393751-T-C
gnomAD v4:
20-37393751-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.37393751T>C , CM000682.2:g.37393751T>C | GRCh38 |
| NC_000020.10:g.36022154T>C , CM000682.1:g.36022154T>C | GRCh37 |
| NC_000020.9:g.35455568T>C | NCBI36 |
| NG_023033.1:g.54067T>C , LRG_1018:g.54067T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358208.9:c.402-144T>C | ENSP00000350941.5:n.402-144T>C | |
| ENST00000692112.1:c.351-144T>C | ENSP00000508666.1:n.351-144T>C | |
| ENST00000692423.1:c.351-144T>C | ENSP00000509325.1:n.351-144T>C | |
| ENST00000373578.7:c.351-144T>C MANE Select | ENSP00000362680.2:n.351-144T>C | |
| ENST00000358208.8:c.351-144T>C | ENSP00000350941.4:n.351-144T>C | |
| ENST00000373558.2:c.369-144T>C | ENSP00000362659.2:n.369-144T>C | |
| ENST00000373567.6:c.351-144T>C | ENSP00000362668.2:n.351-144T>C | |
| ENST00000373578.6:c.351-144T>C | ENSP00000362680.2:n.351-144T>C | |
| ENST00000472968.1:n.182-144T>C | ||
| ENST00000489153.1:n.7T>C | ||
| NM_005417.4:c.351-144T>C | NP_005408.1:n.351-144T>C | |
| NM_198291.2:c.351-144T>C , LRG_1018t1:c.351-144T>C | NP_938033.1:n.351-144T>C | |
| XM_011529013.1:c.351-144T>C | XP_011527315.1:n.351-144T>C | |
| XM_011529014.1:c.351-144T>C | XP_011527316.1:n.351-144T>C | |
| XM_011529013.2:c.351-144T>C | XP_011527315.1:n.351-144T>C | |
| XM_017028024.1:c.369-144T>C | XP_016883513.1:n.369-144T>C | |
| XM_017028025.1:c.369-144T>C | XP_016883514.1:n.369-144T>C | |
| XM_017028026.1:c.369-144T>C | XP_016883515.1:n.369-144T>C | |
| XM_017028027.2:c.369-144T>C | XP_016883516.1:n.369-144T>C | |
| NM_005417.5:c.351-144T>C | NP_005408.1:n.351-144T>C | |
| NM_198291.3:c.351-144T>C MANE Select | NP_938033.1:n.351-144T>C |