Linked Data
dbSNP Id:
rs914719245
gnomAD v2:
9-377169-T-C
gnomAD v3:
9-377169-T-C
gnomAD v4:
9-377169-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.377169T>C , CM000671.2:g.377169T>C | GRCh38 |
| NC_000009.11:g.377169T>C , CM000671.1:g.377169T>C | GRCh37 |
| NC_000009.10:g.367169T>C | NCBI36 |
| NG_017007.1:g.167305T>C , LRG_196:g.167305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2194T>C | ENSP00000371766.2:p.Phe732Leu | |
| ENST00000382331.6:n.895T>C | ||
| ENST00000483757.6:c.*1085T>C | ENSP00000417691.2:n.*1085T>C | |
| ENST00000682260.1:n.2294T>C | ||
| ENST00000685949.1:n.1186T>C | ||
| ENST00000432829.7:c.2398T>C MANE Select | ENSP00000394888.3:p.Phe800Leu | |
| ENST00000382329.1:c.799T>C | ENSP00000371766.1:p.Phe267Leu | |
| ENST00000382331.5:c.304T>C | ENSP00000371768.1:p.Phe102Leu | |
| ENST00000432829.6:c.2398T>C | ENSP00000394888.3:p.Phe800Leu | |
| ENST00000453981.5:c.2194T>C | ENSP00000408464.2:p.Phe732Leu | |
| ENST00000469391.5:c.2194T>C | ENSP00000419438.1:p.Phe732Leu | |
| ENST00000483757.5:c.*1873T>C | ENSP00000417691.1:n.*1873T>C | |
| ENST00000495184.5:n.4353T>C | ||
| NM_001190458.1:c.2194T>C | NP_001177387.1:p.Phe732Leu | |
| NM_001193536.1:c.2194T>C | NP_001180465.1:p.Phe732Leu | |
| NM_203447.3:c.2398T>C , LRG_196t1:c.2398T>C | NP_982272.2:p.Phe800Leu | |
| XM_011518045.1:c.2194T>C | XP_011516347.1:p.Phe732Leu | |
| XM_011518046.1:c.2260T>C | XP_011516348.1:p.Phe754Leu | |
| XM_011518047.1:c.2194T>C | XP_011516349.1:p.Phe732Leu | |
| XM_011518048.1:c.2194T>C | XP_011516350.1:p.Phe732Leu | |
| XM_011518049.1:c.634T>C | XP_011516351.1:p.Phe212Leu | |
| XM_011518045.3:c.2194T>C | XP_011516347.1:p.Phe732Leu | |
| XM_011518046.2:c.2260T>C | XP_011516348.1:p.Phe754Leu | |
| XM_011518047.3:c.2194T>C | XP_011516349.1:p.Phe732Leu | |
| XM_011518048.2:c.2194T>C | XP_011516350.1:p.Phe732Leu | |
| XM_011518049.2:c.634T>C | XP_011516351.1:p.Phe212Leu | |
| XM_017015173.1:c.2194T>C | XP_016870662.1:p.Phe732Leu | |
| XM_017015174.1:c.2260T>C | XP_016870663.1:p.Phe754Leu | |
| NM_001190458.2:c.2194T>C | NP_001177387.1:p.Phe732Leu | |
| NM_001193536.2:c.2194T>C | NP_001180465.1:p.Phe732Leu | |
| NM_203447.4:c.2398T>C MANE Select | NP_982272.2:p.Phe800Leu |