Linked Data
ClinVar Variation Id:
160052
dbSNP Id:
rs139912214
ExAC:
1:47746675 C / G
gnomAD v2:
1-47746675-C-G
gnomAD v3:
1-47281003-C-G
gnomAD v4:
1-47281003-C-G
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.47281003C>G , CM000663.2:g.47281003C>G | GRCh38 |
| NC_000001.10:g.47746675C>G , CM000663.1:g.47746675C>G | GRCh37 |
| NC_000001.9:g.47519262C>G | NCBI36 |
| NG_012126.1:g.38145G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337817.10:c.1314G>C | ENSP00000337367.6:p.Leu438Phe | |
| ENST00000436811.2:c.1455G>C | ENSP00000409087.2:p.Leu485Phe | |
| ENST00000447475.7:c.1314G>C | ENSP00000411664.3:p.Leu438Phe | |
| ENST00000682940.1:n.590G>C | ||
| ENST00000682977.1:c.1314G>C | ENSP00000506981.1:p.Leu438Phe | |
| ENST00000683977.1:c.754G>C | ||
| ENST00000684618.1:n.230G>C | ||
| ENST00000371877.8:c.1455G>C MANE Select | ENSP00000360944.3:p.Leu485Phe | |
| ENST00000337817.9:c.1314G>C | ENSP00000337367.6:p.Leu438Phe | |
| ENST00000360380.7:c.1455G>C | ENSP00000353544.3:p.Leu485Phe | |
| ENST00000371877.7:c.1455G>C | ENSP00000360944.3:p.Leu485Phe | |
| ENST00000396221.6:c.1455G>C | ENSP00000379523.2:p.Leu485Phe | |
| ENST00000418131.1:n.1936G>C | ||
| ENST00000436811.1:c.55G>C | ||
| ENST00000447475.6:c.1314G>C | ENSP00000411664.2:p.Leu438Phe | |
| NM_001048166.1:c.1455G>C MANE Select | NP_001041631.1:p.Leu485Phe | |
| NM_001282936.1:c.1455G>C | NP_001269865.1:p.Leu485Phe | |
| NM_001282937.1:c.1455G>C | NP_001269866.1:p.Leu485Phe | |
| NM_001282938.1:c.1314G>C | NP_001269867.1:p.Leu438Phe | |
| NM_001282939.1:c.1314G>C | NP_001269868.1:p.Leu438Phe | |
| NM_003035.2:c.1455G>C | NP_003026.2:p.Leu485Phe | |
| XM_006710834.2:c.1455G>C | XP_006710897.1:p.Leu485Phe | |
| XM_011541991.1:c.1455G>C | XP_011540293.1:p.Leu485Phe | |
| XM_011541992.1:c.1455G>C | XP_011540294.1:p.Leu485Phe | |
| XM_011541993.1:c.1455G>C | XP_011540295.1:p.Leu485Phe | |
| XM_011541994.1:c.1455G>C | XP_011540296.1:p.Leu485Phe | |
| XM_011541995.1:c.1455G>C | XP_011540297.1:p.Leu485Phe | |
| XM_011541996.1:c.1314G>C | XP_011540298.1:p.Leu438Phe | |
| XM_011541997.1:c.1314G>C | XP_011540299.1:p.Leu438Phe | |
| XM_011541998.1:c.1314G>C | XP_011540300.1:p.Leu438Phe | |
| XM_011541999.1:c.759G>C | XP_011540301.1:p.Leu253Phe | |
| XM_011542000.1:c.759G>C | XP_011540302.1:p.Leu253Phe | |
| XM_011542001.1:c.1455G>C | XP_011540303.1:p.Leu485Phe | |
| XR_946746.1:n.1610G>C | ||
| XM_006710834.3:c.1455G>C | XP_006710897.1:p.Leu485Phe | |
| XM_011541991.2:c.1455G>C | XP_011540293.1:p.Leu485Phe | |
| XM_011541992.2:c.1455G>C | XP_011540294.1:p.Leu485Phe | |
| XM_011541994.2:c.1455G>C | XP_011540296.1:p.Leu485Phe | |
| XM_011541996.2:c.1314G>C | XP_011540298.1:p.Leu438Phe | |
| XM_011541998.2:c.1314G>C | XP_011540300.1:p.Leu438Phe | |
| XM_011542001.2:c.1455G>C | XP_011540303.1:p.Leu485Phe | |
| XM_017002123.1:c.1314G>C | XP_016857612.1:p.Leu438Phe | |
| XM_017002124.1:c.744G>C | XP_016857613.1:p.Leu248Phe | |
| XM_017002125.1:c.1455G>C | XP_016857614.1:p.Leu485Phe | |
| XM_017002126.1:c.1455G>C | XP_016857615.1:p.Leu485Phe | |
| XM_017002127.1:c.1455G>C | XP_016857616.1:p.Leu485Phe | |
| XR_001737370.1:n.1610G>C | ||
| NM_001377417.1:c.1314G>C | NP_001364346.1:p.Leu438Phe |