Linked Data
dbSNP Id:
rs775446374
ExAC:
5:131726406 T / G
gnomAD v2:
5-131726406-T-G
gnomAD v4:
5-132390714-T-G
COSMIC:
COSM735722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390714T>G , CM000667.2:g.132390714T>G | GRCh38 |
| NC_000005.9:g.131726406T>G , CM000667.1:g.131726406T>G | GRCh37 |
| NC_000005.8:g.131754305T>G | NCBI36 |
| NG_008982.1:g.26006T>G | |
| NG_008982.2:g.26011T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.918T>G | ENSP00000388838.2:p.Phe306Leu | |
| ENST00000435065.7:c.1149T>G | ENSP00000402760.2:p.Phe383Leu | |
| ENST00000448810.6:c.1053-62T>G | ENSP00000401860.2:n.1053-62T>G | |
| ENST00000685543.1:n.1218T>G | ||
| ENST00000686757.1:c.*241T>G | ENSP00000510721.1:n.*241T>G | |
| ENST00000687740.1:n.3762T>G | ||
| ENST00000688151.1:n.2387T>G | ||
| ENST00000689271.1:c.924T>G | ENSP00000510797.1:p.Phe308Leu | |
| ENST00000690900.1:c.*241T>G | ENSP00000510703.1:n.*241T>G | |
| ENST00000692212.1:n.2689T>G | ||
| ENST00000692355.1:c.330T>G | ||
| ENST00000692413.1:c.1059T>G | ENSP00000509374.1:p.Phe353Leu | |
| ENST00000692825.1:c.1145T>G | ENSP00000509447.1:n.1145T>G | |
| ENST00000693308.1:c.1125T>G | ENSP00000509770.1:p.Phe375Leu | |
| ENST00000693763.1:n.2237T>G | ||
| ENST00000245407.8:c.1077T>G MANE Select | ENSP00000245407.3:p.Phe359Leu | |
| ENST00000245407.7:c.1077T>G | ENSP00000245407.3:p.Phe359Leu | |
| ENST00000435065.6:c.1149T>G | ENSP00000402760.2:p.Phe383Leu | |
| ENST00000447841.5:c.111+1693T>G | ||
| ENST00000448810.5:c.401-62T>G | ||
| ENST00000461013.5:n.8499T>G | ||
| ENST00000475308.1:n.1755T>G | ||
| ENST00000479605.5:n.180T>G | ||
| NM_001308122.1:c.1149T>G | NP_001295051.1:p.Phe383Leu | |
| NM_003060.3:c.1077T>G | NP_003051.1:p.Phe359Leu | |
| XM_011543590.1:c.459T>G | XP_011541892.1:p.Phe153Leu | |
| XR_427718.1:n.1437T>G | ||
| XR_948290.1:n.1393+1693T>G | ||
| XR_948291.1:n.1431T>G | ||
| XM_011543590.2:c.459T>G | XP_011541892.1:p.Phe153Leu | |
| XM_017009778.2:c.549T>G | XP_016865267.1:p.Phe183Leu | |
| XR_001742215.1:n.1394-62T>G | ||
| XR_001742216.1:n.1413-62T>G | ||
| XR_427718.2:n.1437T>G | ||
| XR_948290.2:n.1393+1693T>G | ||
| XR_948291.2:n.1431T>G | ||
| NM_003060.4:c.1077T>G MANE Select | NP_003051.1:p.Phe359Leu | |
| NM_001308122.2:c.1149T>G | NP_001295051.1:p.Phe383Leu |