Linked Data
ClinVar Variation Id:
1669293
dbSNP Id:
rs1377312502
gnomAD v2:
3-14183250-C-T
gnomAD v3:
3-14141750-C-T
gnomAD v4:
3-14141750-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141750C>T , CM000665.2:g.14141750C>T | GRCh38 |
| NC_000003.11:g.14183250C>T , CM000665.1:g.14183250C>T | GRCh37 |
| NC_000003.10:g.14158251C>T | NCBI36 |
| NG_008975.1:g.21811C>T , LRG_435:g.21811C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1188C>T | ENSP00000395617.1:n.*1188C>T | |
| ENST00000306077.5:c.1158C>T MANE Select | ENSP00000303992.5:p.Pro386= | |
| ENST00000306077.4:c.1158C>T | ENSP00000303992.4:p.Pro386= | |
| ENST00000601399.3:n.327+2453C>T | ||
| ENST00000608606.1:c.236+2453C>T | ||
| ENST00000626721.1:n.23C>T | ||
| NM_024334.2:c.1158C>T , LRG_435t1:c.1158C>T | NP_077310.1:p.Pro386= | |
| XM_011534109.1:c.1053C>T | XP_011532411.1:p.Pro351= | |
| XM_017007176.2:c.1053C>T | XP_016862665.1:p.Pro351= | |
| NM_024334.3:c.1158C>T MANE Select | NP_077310.1:p.Pro386= |