Linked Data
dbSNP Id:
rs1455130415
gnomAD v2:
11-67803827-T-C
gnomAD v3:
11-68036360-T-C
gnomAD v4:
11-68036360-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036360T>C , CM000673.2:g.68036360T>C | GRCh38 |
| NC_000011.9:g.67803827T>C , CM000673.1:g.67803827T>C | GRCh37 |
| NC_000011.8:g.67560403T>C | NCBI36 |
| NG_007878.1:g.2345T>C , LRG_115:g.2345T>C | |
| NG_017040.1:g.10744T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.480T>C MANE Select | ENSP00000315774.5:p.Cys160= | |
| ENST00000313468.9:c.480T>C | ENSP00000315774.5:p.Cys160= | |
| ENST00000524810.5:c.412T>C | ||
| ENST00000526339.5:c.480T>C | ENSP00000436287.1:p.Cys160= | |
| ENST00000526446.5:c.*535T>C | ENSP00000433645.1:n.*535T>C | |
| ENST00000528492.1:c.42T>C | ENSP00000432848.1:p.Cys14= | |
| ENST00000531282.1:n.332T>C | ||
| NM_002496.3:c.480T>C | NP_002487.1:p.Cys160= | |
| XM_005274013.1:c.480T>C | XP_005274070.1:p.Cys160= | |
| XM_005274014.1:c.480T>C | XP_005274071.1:p.Cys160= | |
| XM_005274015.1:c.360T>C | XP_005274072.1:p.Cys120= | |
| XM_011545053.1:c.480T>C | XP_011543355.1:p.Cys160= | |
| NM_002496.4:c.480T>C MANE Select | NP_002487.1:p.Cys160= |