Linked Data
dbSNP Id:
rs778392409
ExAC:
19:39063877 C / A
gnomAD v2:
19-39063877-C-A
gnomAD v4:
19-38573237-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38573237C>A , CM000681.2:g.38573237C>A | GRCh38 |
| NC_000019.9:g.39063877C>A , CM000681.1:g.39063877C>A | GRCh37 |
| NC_000019.8:g.43755717C>A | NCBI36 |
| NG_008866.1:g.144538C>A , LRG_766:g.144538C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.995C>A | ||
| ENST00000688602.1:c.2392C>A | ||
| ENST00000689936.1:c.2364C>A | ||
| ENST00000359596.8:c.14059C>A MANE Select | ENSP00000352608.2:p.Leu4687Met | |
| ENST00000355481.8:c.14044C>A | ENSP00000347667.3:p.Leu4682Met | |
| ENST00000359596.7:c.14059C>A | ENSP00000352608.2:p.Leu4687Met | |
| ENST00000360985.7:c.14041C>A | ENSP00000354254.4:p.Leu4681Met | |
| NM_000540.2:c.14059C>A , LRG_766t1:c.14059C>A | NP_000531.2:p.Leu4687Met | |
| NM_001042723.1:c.14044C>A | NP_001036188.1:p.Leu4682Met | |
| XM_006723317.1:c.14041C>A | XP_006723380.1:p.Leu4681Met | |
| XM_006723319.1:c.14026C>A | XP_006723382.1:p.Leu4676Met | |
| XM_011527204.1:c.14056C>A | XP_011525506.1:p.Leu4686Met | |
| XM_011527205.1:c.13972C>A | XP_011525507.1:p.Leu4658Met | |
| XM_006723317.2:c.14041C>A | XP_006723380.1:p.Leu4681Met | |
| XM_006723319.2:c.14026C>A | XP_006723382.1:p.Leu4676Met | |
| XM_011527205.2:c.13972C>A | XP_011525507.1:p.Leu4658Met | |
| NM_000540.3:c.14059C>A MANE Select | NP_000531.2:p.Leu4687Met | |
| NM_001042723.2:c.14044C>A | NP_001036188.1:p.Leu4682Met |