Linked Data
ClinVar Variation Id:
178769
dbSNP Id:
rs2297079
ExAC:
9:421032 C / G
gnomAD v2:
9-421032-C-G
gnomAD v3:
9-421032-C-G
gnomAD v4:
9-421032-C-G
PubMed:
PMID:26680607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.421032C>G , CM000671.2:g.421032C>G | GRCh38 |
| NC_000009.11:g.421032C>G , CM000671.1:g.421032C>G | GRCh37 |
| NC_000009.10:g.411032C>G | NCBI36 |
| NG_017007.1:g.211168C>G , LRG_196:g.211168C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.3807C>G | ENSP00000371766.2:p.Leu1269= | |
| ENST00000683406.1:n.628C>G | ||
| ENST00000685949.1:n.2895C>G | ||
| ENST00000432829.7:c.4107C>G MANE Select | ENSP00000394888.3:p.Leu1369= | |
| ENST00000382329.1:c.2508C>G | ENSP00000371766.1:p.Leu836= | |
| ENST00000432829.6:c.4107C>G | ENSP00000394888.3:p.Leu1369= | |
| ENST00000453981.5:c.3903C>G | ENSP00000408464.2:p.Leu1301= | |
| ENST00000469391.5:c.3807C>G | ENSP00000419438.1:p.Leu1269= | |
| ENST00000493666.2:n.332C>G | ||
| ENST00000495184.5:n.6062C>G | ||
| NM_001190458.1:c.3807C>G | NP_001177387.1:p.Leu1269= | |
| NM_001193536.1:c.3903C>G | NP_001180465.1:p.Leu1301= | |
| NM_203447.3:c.4107C>G , LRG_196t1:c.4107C>G | NP_982272.2:p.Leu1369= | |
| XM_011518045.1:c.3807C>G | XP_011516347.1:p.Leu1269= | |
| XM_011518046.1:c.3969C>G | XP_011516348.1:p.Leu1323= | |
| XM_011518047.1:c.3903C>G | XP_011516349.1:p.Leu1301= | |
| XM_011518048.1:c.3903C>G | XP_011516350.1:p.Leu1301= | |
| XM_011518049.1:c.2343C>G | XP_011516351.1:p.Leu781= | |
| XM_011518045.3:c.3807C>G | XP_011516347.1:p.Leu1269= | |
| XM_011518046.2:c.3969C>G | XP_011516348.1:p.Leu1323= | |
| XM_011518047.3:c.3903C>G | XP_011516349.1:p.Leu1301= | |
| XM_011518048.2:c.3903C>G | XP_011516350.1:p.Leu1301= | |
| XM_011518049.2:c.2343C>G | XP_011516351.1:p.Leu781= | |
| XM_017015173.1:c.3903C>G | XP_016870662.1:p.Leu1301= | |
| XM_017015174.1:c.3969C>G | XP_016870663.1:p.Leu1323= | |
| NM_001190458.2:c.3807C>G | NP_001177387.1:p.Leu1269= | |
| NM_001193536.2:c.3903C>G | NP_001180465.1:p.Leu1301= | |
| NM_203447.4:c.4107C>G MANE Select | NP_982272.2:p.Leu1369= |