Linked Data
ClinVar Variation Id:
343520
dbSNP Id:
rs3796308
gnomAD v2:
3-14184014-G-T
gnomAD v3:
3-14142514-G-T
gnomAD v4:
3-14142514-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14142514G>T , CM000665.2:g.14142514G>T | GRCh38 |
| NC_000003.11:g.14184014G>T , CM000665.1:g.14184014G>T | GRCh37 |
| NC_000003.10:g.14159015G>T | NCBI36 |
| NG_008975.1:g.22575G>T , LRG_435:g.22575G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1952G>T | ENSP00000395617.1:n.*1952G>T | |
| ENST00000306077.5:c.*719G>T MANE Select | ENSP00000303992.5:n.*719G>T | |
| ENST00000306077.4:c.*719G>T | ENSP00000303992.4:n.*719G>T | |
| ENST00000601399.3:n.328-2808G>T | ||
| ENST00000608606.1:c.237-2808G>T | ||
| ENST00000626721.1:n.226+561G>T | ||
| NM_024334.2:c.*719G>T , LRG_435t1:c.*719G>T | NP_077310.1:n.*719G>T | |
| XM_011534109.1:c.*719G>T | XP_011532411.1:n.*719G>T | |
| XM_017007176.2:c.*719G>T | XP_016862665.1:n.*719G>T | |
| NM_024334.3:c.*719G>T MANE Select | NP_077310.1:n.*719G>T |