Linked Data
ClinVar Variation Id:
377799
dbSNP Id:
rs148081681
ExAC:
9:420548 C / G
gnomAD v2:
9-420548-C-G
gnomAD v3:
9-420548-C-G
gnomAD v4:
9-420548-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.420548C>G , CM000671.2:g.420548C>G | GRCh38 |
| NC_000009.11:g.420548C>G , CM000671.1:g.420548C>G | GRCh37 |
| NC_000009.10:g.410548C>G | NCBI36 |
| NG_017007.1:g.210684C>G , LRG_196:g.210684C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.3688C>G | ENSP00000371766.2:p.Leu1230Val | |
| ENST00000683406.1:n.509C>G | ||
| ENST00000685949.1:n.2776C>G | ||
| ENST00000432829.7:c.3988C>G MANE Select | ENSP00000394888.3:p.Leu1330Val | |
| ENST00000382329.1:c.2389C>G | ENSP00000371766.1:p.Leu797Val | |
| ENST00000432829.6:c.3988C>G | ENSP00000394888.3:p.Leu1330Val | |
| ENST00000453981.5:c.3784C>G | ENSP00000408464.2:p.Leu1262Val | |
| ENST00000469391.5:c.3688C>G | ENSP00000419438.1:p.Leu1230Val | |
| ENST00000493666.2:n.213C>G | ||
| ENST00000495184.5:n.5943C>G | ||
| NM_001190458.1:c.3688C>G | NP_001177387.1:p.Leu1230Val | |
| NM_001193536.1:c.3784C>G | NP_001180465.1:p.Leu1262Val | |
| NM_203447.3:c.3988C>G , LRG_196t1:c.3988C>G | NP_982272.2:p.Leu1330Val | |
| XM_011518045.1:c.3688C>G | XP_011516347.1:p.Leu1230Val | |
| XM_011518046.1:c.3850C>G | XP_011516348.1:p.Leu1284Val | |
| XM_011518047.1:c.3784C>G | XP_011516349.1:p.Leu1262Val | |
| XM_011518048.1:c.3784C>G | XP_011516350.1:p.Leu1262Val | |
| XM_011518049.1:c.2224C>G | XP_011516351.1:p.Leu742Val | |
| XM_011518045.3:c.3688C>G | XP_011516347.1:p.Leu1230Val | |
| XM_011518046.2:c.3850C>G | XP_011516348.1:p.Leu1284Val | |
| XM_011518047.3:c.3784C>G | XP_011516349.1:p.Leu1262Val | |
| XM_011518048.2:c.3784C>G | XP_011516350.1:p.Leu1262Val | |
| XM_011518049.2:c.2224C>G | XP_011516351.1:p.Leu742Val | |
| XM_017015173.1:c.3784C>G | XP_016870662.1:p.Leu1262Val | |
| XM_017015174.1:c.3850C>G | XP_016870663.1:p.Leu1284Val | |
| NM_001190458.2:c.3688C>G | NP_001177387.1:p.Leu1230Val | |
| NM_001193536.2:c.3784C>G | NP_001180465.1:p.Leu1262Val | |
| NM_203447.4:c.3988C>G MANE Select | NP_982272.2:p.Leu1330Val |