Linked Data
ClinVar Variation Id:
2955239
ClinVar RCV Id:
RCV003818414
dbSNP Id:
rs1466884109
gnomAD v2:
9-377135-C-T
gnomAD v3:
9-377135-C-T
gnomAD v4:
9-377135-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.377135C>T , CM000671.2:g.377135C>T | GRCh38 |
| NC_000009.11:g.377135C>T , CM000671.1:g.377135C>T | GRCh37 |
| NC_000009.10:g.367135C>T | NCBI36 |
| NG_017007.1:g.167271C>T , LRG_196:g.167271C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2160C>T | ENSP00000371766.2:p.Leu720= | |
| ENST00000382331.6:n.861C>T | ||
| ENST00000483757.6:c.*1051C>T | ENSP00000417691.2:n.*1051C>T | |
| ENST00000682260.1:n.2260C>T | ||
| ENST00000685949.1:n.1152C>T | ||
| ENST00000432829.7:c.2364C>T MANE Select | ENSP00000394888.3:p.Leu788= | |
| ENST00000382329.1:c.765C>T | ENSP00000371766.1:p.Leu255= | |
| ENST00000382331.5:c.270C>T | ENSP00000371768.1:p.Leu90= | |
| ENST00000432829.6:c.2364C>T | ENSP00000394888.3:p.Leu788= | |
| ENST00000453981.5:c.2160C>T | ENSP00000408464.2:p.Leu720= | |
| ENST00000469391.5:c.2160C>T | ENSP00000419438.1:p.Leu720= | |
| ENST00000483757.5:c.*1839C>T | ENSP00000417691.1:n.*1839C>T | |
| ENST00000495184.5:n.4319C>T | ||
| NM_001190458.1:c.2160C>T | NP_001177387.1:p.Leu720= | |
| NM_001193536.1:c.2160C>T | NP_001180465.1:p.Leu720= | |
| NM_203447.3:c.2364C>T , LRG_196t1:c.2364C>T | NP_982272.2:p.Leu788= | |
| XM_011518045.1:c.2160C>T | XP_011516347.1:p.Leu720= | |
| XM_011518046.1:c.2226C>T | XP_011516348.1:p.Leu742= | |
| XM_011518047.1:c.2160C>T | XP_011516349.1:p.Leu720= | |
| XM_011518048.1:c.2160C>T | XP_011516350.1:p.Leu720= | |
| XM_011518049.1:c.600C>T | XP_011516351.1:p.Leu200= | |
| XM_011518045.3:c.2160C>T | XP_011516347.1:p.Leu720= | |
| XM_011518046.2:c.2226C>T | XP_011516348.1:p.Leu742= | |
| XM_011518047.3:c.2160C>T | XP_011516349.1:p.Leu720= | |
| XM_011518048.2:c.2160C>T | XP_011516350.1:p.Leu720= | |
| XM_011518049.2:c.600C>T | XP_011516351.1:p.Leu200= | |
| XM_017015173.1:c.2160C>T | XP_016870662.1:p.Leu720= | |
| XM_017015174.1:c.2226C>T | XP_016870663.1:p.Leu742= | |
| NM_001190458.2:c.2160C>T | NP_001177387.1:p.Leu720= | |
| NM_001193536.2:c.2160C>T | NP_001180465.1:p.Leu720= | |
| NM_203447.4:c.2364C>T MANE Select | NP_982272.2:p.Leu788= |