Linked Data
ClinVar Variation Id:
11419
ClinVar RCV Id:
RCV000012172
dbSNP Id:
rs122467175
PubMed:
PMID:17635943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251711A>G , CM000685.2:g.49251711A>G | GRCh38 |
| NC_000023.10:g.49108172A>G , CM000685.1:g.49108172A>G | GRCh37 |
| NC_000023.9:g.48995116A>G | NCBI36 |
| NG_007392.1:g.18117T>C , LRG_62:g.18117T>C | |
| NG_021311.2:g.21247A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376199.7:c.994T>C | ENSP00000365372.2:p.Phe332Leu | |
| ENST00000376207.10:c.1099T>C MANE Select | ENSP00000365380.4:p.Phe367Leu | |
| ENST00000455775.7:c.1168T>C | ENSP00000396415.3:p.Phe390Leu | |
| ENST00000518685.6:c.1018T>C | ENSP00000428952.2:p.Phe340Leu | |
| ENST00000557224.6:c.994T>C | ENSP00000451208.1:p.Phe332Leu | |
| ENST00000651307.1:c.*14T>C | ENSP00000498454.1:n.*14T>C | |
| ENST00000376197.1:c.949T>C | ENSP00000365369.1:p.Phe317Leu | |
| ENST00000376199.6:c.994T>C | ENSP00000365372.2:p.Phe332Leu | |
| ENST00000376207.8:c.1099T>C | ENSP00000365380.4:p.Phe367Leu | |
| ENST00000455775.6:c.1168T>C | ENSP00000396415.3:p.Phe390Leu | |
| ENST00000518685.5:c.994T>C | ENSP00000428952.1:p.Phe332Leu | |
| ENST00000557224.5:c.994T>C | ENSP00000451208.1:p.Phe332Leu | |
| NM_001114377.1:c.994T>C | NP_001107849.1:p.Phe332Leu | |
| NM_014009.3:c.1099T>C , LRG_62t1:c.1099T>C | NP_054728.2:p.Phe367Leu | |
| XM_006724533.2:c.1168T>C | XP_006724596.2:p.Phe390Leu | |
| XM_011543915.1:c.1318T>C | XP_011542217.1:p.Phe440Leu | |
| XM_011543916.1:c.1318T>C | XP_011542218.1:p.Phe440Leu | |
| XM_011543917.1:c.1117T>C | XP_011542219.1:p.Phe373Leu | |
| XM_011543918.1:c.1354T>C | XP_011542220.1:p.Phe452Leu | |
| XM_011543919.1:c.1318T>C | XP_011542221.1:p.Phe440Leu | |
| XM_017029567.1:c.1045T>C | XP_016885056.1:p.Phe349Leu | |
| NM_001114377.2:c.994T>C | NP_001107849.1:p.Phe332Leu | |
| NM_014009.4:c.1099T>C MANE Select | NP_054728.2:p.Phe367Leu |