Linked Data
ClinVar Variation Id:
314705
dbSNP Id:
rs7144481
gnomAD v2:
14-81610942-C-T
gnomAD v3:
14-81144598-C-T
gnomAD v4:
14-81144598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81144598C>T , CM000676.2:g.81144598C>T | GRCh38 |
| NC_000014.8:g.81610942C>T , CM000676.1:g.81610942C>T | GRCh37 |
| NC_000014.7:g.80680695C>T | NCBI36 |
| NG_009206.1:g.194074C>T , LRG_523:g.194074C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.*245C>T MANE Select | ENSP00000298171.2:n.*245C>T | |
| ENST00000637447.1:c.1443C>T | ||
| ENST00000298171.6:c.*245C>T | ENSP00000298171.2:n.*245C>T | |
| ENST00000541158.6:c.*245C>T | ENSP00000441235.2:n.*245C>T | |
| NM_000369.2:c.*245C>T , LRG_523t1:c.*245C>T | NP_000360.2:n.*245C>T | |
| XM_005268037.3:c.*245C>T | XP_005268094.1:n.*245C>T | |
| XM_011537119.1:c.*245C>T | XP_011535421.1:n.*245C>T | |
| XR_245790.3:n.2086+20595G>A | ||
| XR_429385.2:n.853+20595G>A | ||
| XR_429386.2:n.854+20595G>A | ||
| XR_944075.1:n.865+20595G>A | ||
| XR_944076.1:n.861+20595G>A | ||
| XR_944077.1:n.865+20595G>A | ||
| XR_944078.1:n.865+20595G>A | ||
| XR_944079.1:n.855+20595G>A | ||
| XM_005268037.4:c.*245C>T | XP_005268094.1:n.*245C>T | |
| XM_011537119.2:c.*245C>T | XP_011535421.1:n.*245C>T | |
| XR_001751021.1:n.2753+20595G>A | ||
| XR_001751022.1:n.2753+20595G>A | ||
| XR_001751023.1:n.2753+20595G>A | ||
| XR_944075.3:n.929+20595G>A | ||
| NM_000369.4:c.*245C>T | NP_000360.2:n.*245C>T | |
| NM_000369.5:c.*245C>T MANE Select | NP_000360.2:n.*245C>T |