Linked Data
ClinVar Variation Id:
3057771
dbSNP Id:
rs774329716
ExAC:
11:44146352 T / C
gnomAD v2:
11-44146352-T-C
gnomAD v3:
11-44124802-T-C
gnomAD v4:
11-44124802-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44124802T>C , CM000673.2:g.44124802T>C | GRCh38 |
| NC_000011.9:g.44146352T>C , CM000673.1:g.44146352T>C | GRCh37 |
| NC_000011.8:g.44102928T>C | NCBI36 |
| NG_007560.1:g.34254T>C , LRG_494:g.34254T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.757T>C | ENSP00000342656.3:p.Phe253Leu | |
| ENST00000395673.8:c.757T>C | ENSP00000379032.4:p.Phe253Leu | |
| ENST00000531161.6:n.916T>C | ||
| ENST00000682359.1:c.757T>C | ENSP00000508226.1:p.Phe253Leu | |
| ENST00000682711.1:c.-544+28950T>C | ENSP00000506803.1:n.-544+28950T>C | |
| ENST00000682815.1:c.757T>C | ENSP00000507234.1:p.Phe253Leu | |
| ENST00000682947.1:n.931T>C | ||
| ENST00000682993.1:c.757T>C | ENSP00000507580.1:p.Phe253Leu | |
| ENST00000683000.1:c.757T>C | ENSP00000508361.1:p.Phe253Leu | |
| ENST00000683299.1:n.1174T>C | ||
| ENST00000683870.1:c.757T>C | ENSP00000507922.1:p.Phe253Leu | |
| ENST00000683881.1:n.3318T>C | ||
| ENST00000684039.1:c.757T>C | ENSP00000507677.1:p.Phe253Leu | |
| ENST00000684124.1:c.757T>C | ENSP00000508332.1:p.Phe253Leu | |
| ENST00000684533.1:c.744-5243T>C | ENSP00000507915.1:n.744-5243T>C | |
| ENST00000533608.7:c.757T>C MANE Select | ENSP00000431173.2:p.Phe253Leu | |
| ENST00000343631.3:c.757T>C | ENSP00000342656.3:p.Phe253Leu | |
| ENST00000358681.8:c.757T>C | ENSP00000351509.4:p.Phe253Leu | |
| ENST00000395673.7:c.856T>C | ENSP00000379032.3:p.Phe286Leu | |
| ENST00000533608.5:c.757T>C | ENSP00000431173.1:p.Phe253Leu | |
| NM_000401.3:c.856T>C , LRG_494t1:c.856T>C | NP_000392.3:p.Phe286Leu | |
| NM_001178083.1:c.757T>C | NP_001171554.1:p.Phe253Leu | |
| NM_207122.1:c.757T>C , LRG_494t2:c.757T>C | NP_997005.1:p.Phe253Leu | |
| XM_011519950.1:c.895T>C | XP_011518252.1:p.Phe299Leu | |
| XM_011519951.1:c.796T>C | XP_011518253.1:p.Phe266Leu | |
| XM_024448383.1:c.895T>C | XP_024304151.1:p.Phe299Leu | |
| NM_001178083.2:c.757T>C | NP_001171554.1:p.Phe253Leu | |
| NM_207122.2:c.757T>C MANE Select | NP_997005.1:p.Phe253Leu | |
| NM_001178083.3:c.757T>C | NP_001171554.1:p.Phe253Leu | |
| NM_001389628.1:c.757T>C | NP_001376557.1:p.Phe253Leu | |
| NM_001389630.1:c.757T>C | NP_001376559.1:p.Phe253Leu |