Linked Data
ClinVar Variation Id:
658507
ClinVar RCV Id:
RCV000815344
dbSNP Id:
rs1379924767
gnomAD v2:
9-135771942-A-G
gnomAD v4:
9-132896555-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896555A>G , CM000671.2:g.132896555A>G | GRCh38 |
| NC_000009.11:g.135771942A>G , CM000671.1:g.135771942A>G | GRCh37 |
| NC_000009.10:g.134761763A>G | NCBI36 |
| NG_012386.1:g.53079T>C , LRG_486:g.53079T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.3172T>C | ENSP00000496126.2:p.Phe1058Leu | |
| ENST00000490179.4:c.3175T>C | ENSP00000495533.2:p.Phe1059Leu | |
| ENST00000642261.2:c.*1031T>C | ENSP00000494743.2:n.*1031T>C | |
| ENST00000643275.2:c.*1115T>C | ENSP00000495598.2:n.*1115T>C | |
| ENST00000643362.2:c.2788T>C | ENSP00000496398.2:p.Phe930Leu | |
| ENST00000643625.2:c.*917T>C | ENSP00000495546.2:n.*917T>C | |
| ENST00000643691.2:c.2812T>C | ENSP00000494916.2:p.Phe938Leu | |
| ENST00000644184.2:c.3133T>C | ENSP00000495428.2:p.Phe1045Leu | |
| ENST00000645129.2:c.3019T>C | ENSP00000493639.2:p.Phe1007Leu | |
| ENST00000646440.2:c.3175T>C | ENSP00000495830.2:p.Phe1059Leu | |
| ENST00000298552.9:c.3175T>C MANE Select | ENSP00000298552.3:p.Phe1059Leu | |
| ENST00000642261.1:c.1312T>C | ||
| ENST00000642617.1:c.3172T>C | ENSP00000493773.1:p.Phe1058Leu | |
| ENST00000642627.1:c.3157T>C | ENSP00000496772.1:p.Phe1053Leu | |
| ENST00000642811.1:c.*2945T>C | ENSP00000495554.1:n.*2945T>C | |
| ENST00000643072.1:c.3022T>C | ENSP00000496691.1:p.Phe1008Leu | |
| ENST00000643275.1:c.1649T>C | ENSP00000495598.1:n.1649T>C | |
| ENST00000643583.1:c.3160T>C | ENSP00000494685.1:p.Phe1054Leu | |
| ENST00000643625.1:c.1052T>C | ENSP00000495546.1:n.1052T>C | |
| ENST00000643875.1:c.3175T>C | ENSP00000495158.1:p.Phe1059Leu | |
| ENST00000644097.1:c.3172T>C | ENSP00000494682.1:p.Phe1058Leu | |
| ENST00000644184.1:c.1870T>C | ENSP00000495428.1:p.Phe624Leu | |
| ENST00000644255.1:c.*2942T>C | ENSP00000493608.1:n.*2942T>C | |
| ENST00000644319.1:n.3550T>C | ||
| ENST00000644786.1:n.834T>C | ||
| ENST00000644882.1:n.2083T>C | ||
| ENST00000645901.1:n.4026T>C | ||
| ENST00000646391.1:c.*2945T>C | ENSP00000494104.1:n.*2945T>C | |
| ENST00000646625.1:c.3175T>C | ENSP00000496263.1:p.Phe1059Leu | |
| ENST00000647262.1:n.2140T>C | ||
| ENST00000647279.1:c.*2414T>C | ENSP00000494502.1:n.*2414T>C | |
| ENST00000647534.1:n.2239T>C | ||
| ENST00000298552.7:c.3175T>C | ENSP00000298552.3:p.Phe1059Leu | |
| ENST00000440111.6:c.3175T>C | ENSP00000394524.2:p.Phe1059Leu | |
| ENST00000545250.5:c.3022T>C | ENSP00000444017.1:p.Phe1008Leu | |
| NM_000368.4:c.3175T>C , LRG_486t1:c.3175T>C | NP_000359.1:p.Phe1059Leu | |
| NM_001162426.1:c.3172T>C | NP_001155898.1:p.Phe1058Leu | |
| NM_001162427.1:c.3022T>C | NP_001155899.1:p.Phe1008Leu | |
| XM_005272211.1:c.3175T>C | XP_005272268.1:p.Phe1059Leu | |
| XM_006717271.1:c.3175T>C | XP_006717334.1:p.Phe1059Leu | |
| XM_011518979.1:c.3175T>C | XP_011517281.1:p.Phe1059Leu | |
| NM_001362177.1:c.2812T>C | NP_001349106.1:p.Phe938Leu | |
| XM_011518979.2:c.3175T>C | XP_011517281.1:p.Phe1059Leu | |
| XM_017015096.1:c.3175T>C | XP_016870585.1:p.Phe1059Leu | |
| XM_017015097.1:c.3175T>C | XP_016870586.1:p.Phe1059Leu | |
| XM_017015098.1:c.3172T>C | XP_016870587.1:p.Phe1058Leu | |
| XM_017015100.1:c.2812T>C | XP_016870589.1:p.Phe938Leu | |
| XM_017015101.1:c.2809T>C | XP_016870590.1:p.Phe937Leu | |
| NM_000368.5:c.3175T>C MANE Select | NP_000359.1:p.Phe1059Leu | |
| NM_001162426.2:c.3172T>C | NP_001155898.1:p.Phe1058Leu | |
| NM_001162427.2:c.3022T>C | NP_001155899.1:p.Phe1008Leu | |
| NM_001362177.2:c.2812T>C | NP_001349106.1:p.Phe938Leu |