Linked Data
ClinVar Variation Id:
2705640
ClinVar RCV Id:
RCV003512925
dbSNP Id:
rs1302712373
gnomAD v2:
16-68863589-G-A
gnomAD v3:
16-68829686-G-A
gnomAD v4:
16-68829686-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829686G>A , CM000678.2:g.68829686G>A | GRCh38 |
| NC_000016.9:g.68863589G>A , CM000678.1:g.68863589G>A | GRCh37 |
| NC_000016.8:g.67421090G>A | NCBI36 |
| NG_008021.1:g.97395G>A , LRG_301:g.97395G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.2328G>A MANE Select | ENSP00000261769.4:p.Leu776= | |
| ENST00000261769.9:c.2328G>A | ENSP00000261769.4:p.Leu776= | |
| ENST00000422392.6:c.2145G>A | ENSP00000414946.2:p.Leu715= | |
| ENST00000562118.1:n.546G>A | ||
| ENST00000562836.5:n.2399G>A | ||
| ENST00000566510.5:c.*994G>A | ENSP00000458139.1:n.*994G>A | |
| ENST00000566612.5:c.*568G>A | ENSP00000454782.1:n.*568G>A | |
| ENST00000611625.4:c.2391G>A | ENSP00000481063.1:p.Leu797= | |
| ENST00000612417.4:c.1853+3132G>A | ENSP00000478360.1:n.1853+3132G>A | |
| ENST00000621016.4:c.1866-4517G>A | ENSP00000480664.1:n.1866-4517G>A | |
| NM_004360.3:c.2328G>A , LRG_301t1:c.2328G>A | NP_004351.1:p.Leu776= | |
| XM_011523488.1:c.1593G>A | XP_011521790.1:p.Leu531= | |
| XM_011523489.1:c.1593G>A | XP_011521791.1:p.Leu531= | |
| NM_001317184.1:c.2145G>A | NP_001304113.1:p.Leu715= | |
| NM_001317185.1:c.780G>A | NP_001304114.1:p.Leu260= | |
| NM_001317186.1:c.363G>A | NP_001304115.1:p.Leu121= | |
| NM_004360.4:c.2328G>A | NP_004351.1:p.Leu776= | |
| NM_004360.5:c.2328G>A MANE Select | NP_004351.1:p.Leu776= | |
| NM_001317184.2:c.2145G>A | NP_001304113.1:p.Leu715= | |
| NM_001317185.2:c.780G>A | NP_001304114.1:p.Leu260= | |
| NM_001317186.2:c.363G>A | NP_001304115.1:p.Leu121= |