Linked Data
ClinVar Variation Id:
532468
ClinVar RCV Id:
RCV000639265
dbSNP Id:
rs1555514408
gnomAD v4:
16-68801717-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801717C>A , CM000678.2:g.68801717C>A | GRCh38 |
| NC_000016.9:g.68835620C>A , CM000678.1:g.68835620C>A | GRCh37 |
| NC_000016.8:g.67393121C>A | NCBI36 |
| NG_008021.1:g.69426C>A , LRG_301:g.69426C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.211C>A MANE Select | ENSP00000261769.4:p.Leu71Ile | |
| ENST00000261769.9:c.211C>A | ENSP00000261769.4:p.Leu71Ile | |
| ENST00000422392.6:c.211C>A | ENSP00000414946.2:p.Leu71Ile | |
| ENST00000562836.5:n.282C>A | ||
| ENST00000564676.5:n.493C>A | ||
| ENST00000564745.1:n.206C>A | ||
| ENST00000566510.5:c.211C>A | ENSP00000458139.1:p.Leu71Ile | |
| ENST00000566612.5:c.211C>A | ENSP00000454782.1:p.Leu71Ile | |
| ENST00000611625.4:c.211C>A | ENSP00000481063.1:p.Leu71Ile | |
| ENST00000612417.4:c.211C>A | ENSP00000478360.1:p.Leu71Ile | |
| ENST00000621016.4:c.211C>A | ENSP00000480664.1:p.Leu71Ile | |
| NM_004360.3:c.211C>A , LRG_301t1:c.211C>A | NP_004351.1:p.Leu71Ile | |
| XM_011523488.1:c.-525C>A | XP_011521790.1:n.-525C>A | |
| XM_011523489.1:c.-525C>A | XP_011521791.1:n.-525C>A | |
| NM_001317184.1:c.211C>A | NP_001304113.1:p.Leu71Ile | |
| NM_001317185.1:c.-1405C>A | NP_001304114.1:n.-1405C>A | |
| NM_001317186.1:c.-1609C>A | NP_001304115.1:n.-1609C>A | |
| NM_004360.4:c.211C>A | NP_004351.1:p.Leu71Ile | |
| NM_004360.5:c.211C>A MANE Select | NP_004351.1:p.Leu71Ile | |
| NM_001317184.2:c.211C>A | NP_001304113.1:p.Leu71Ile | |
| NM_001317185.2:c.-1405C>A | NP_001304114.1:n.-1405C>A | |
| NM_001317186.2:c.-1609C>A | NP_001304115.1:n.-1609C>A |