Linked Data
ClinVar Variation Id:
2216350
ClinVar RCV Id:
RCV002682482
dbSNP Id:
rs1248290089
gnomAD v2:
14-68249640-A-T
gnomAD v4:
14-67782923-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67782923A>T , CM000676.2:g.67782923A>T | GRCh38 |
| NC_000014.8:g.68249640A>T , CM000676.1:g.68249640A>T | GRCh37 |
| NC_000014.7:g.67319393A>T | NCBI36 |
| NG_011836.1:g.38667T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.4229T>A MANE Select | ENSP00000251119.5:p.Leu1410Gln | |
| ENST00000676512.1:c.4229T>A | ENSP00000504552.1:p.Leu1410Gln | |
| ENST00000676620.1:c.4229T>A | ENSP00000504587.1:p.Leu1410Gln | |
| ENST00000678386.1:c.4229T>A | ENSP00000503677.1:p.Leu1410Gln | |
| ENST00000347230.8:c.4229T>A | ENSP00000251119.5:p.Leu1410Gln | |
| ENST00000554523.5:n.4366T>A | ||
| ENST00000554557.5:c.*2350+176T>A | ENSP00000450431.1:n.*2350+176T>A | |
| ENST00000555452.1:c.4229T>A | ENSP00000450603.1:p.Leu1410Gln | |
| NM_015346.3:c.4229T>A | NP_056161.2:p.Leu1410Gln | |
| XM_006720093.2:c.4229T>A | XP_006720156.1:p.Leu1410Gln | |
| XM_011536606.1:c.2720T>A | XP_011534908.1:p.Leu907Gln | |
| XM_011536607.1:c.1904T>A | XP_011534909.1:p.Leu635Gln | |
| XM_011536608.1:c.1811T>A | XP_011534910.1:p.Leu604Gln | |
| XM_011536609.1:c.4229T>A | XP_011534911.1:p.Leu1410Gln | |
| XM_011536609.2:c.4229T>A | XP_011534911.1:p.Leu1410Gln | |
| XM_017021124.1:c.4229T>A | XP_016876613.1:p.Leu1410Gln | |
| XM_017021125.1:c.4229T>A | XP_016876614.1:p.Leu1410Gln | |
| XM_017021126.1:c.2720T>A | XP_016876615.1:p.Leu907Gln | |
| XM_017021127.2:c.1904T>A | XP_016876616.1:p.Leu635Gln | |
| XM_017021128.1:c.1811T>A | XP_016876617.1:p.Leu604Gln | |
| NM_015346.4:c.4229T>A MANE Select | NP_056161.2:p.Leu1410Gln |