Linked Data
ClinVar Variation Id:
659126
ClinVar RCV Id:
RCV000816075
dbSNP Id:
rs1580894264
gnomAD v4:
5-132392492-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392492T>C , CM000667.2:g.132392492T>C | GRCh38 |
| NC_000005.9:g.131728184T>C , CM000667.1:g.131728184T>C | GRCh37 |
| NC_000005.8:g.131756083T>C | NCBI36 |
| NG_008982.1:g.27784T>C | |
| NG_008982.2:g.27789T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1168T>C | ENSP00000388838.2:p.Phe390Leu | |
| ENST00000435065.7:c.1399T>C | ENSP00000402760.2:p.Phe467Leu | |
| ENST00000448810.6:c.*179T>C | ENSP00000401860.2:n.*179T>C | |
| ENST00000685543.1:n.1468T>C | ||
| ENST00000686757.1:c.*491T>C | ENSP00000510721.1:n.*491T>C | |
| ENST00000687740.1:n.4012T>C | ||
| ENST00000688151.1:n.2637T>C | ||
| ENST00000689271.1:c.1174T>C | ENSP00000510797.1:p.Phe392Leu | |
| ENST00000690900.1:c.*491T>C | ENSP00000510703.1:n.*491T>C | |
| ENST00000692212.1:n.4467T>C | ||
| ENST00000692355.1:c.580T>C | ||
| ENST00000692413.1:c.1309T>C | ENSP00000509374.1:p.Phe437Leu | |
| ENST00000692825.1:c.1395T>C | ENSP00000509447.1:n.1395T>C | |
| ENST00000693308.1:c.1375T>C | ENSP00000509770.1:p.Phe459Leu | |
| ENST00000693763.1:n.2487T>C | ||
| ENST00000245407.8:c.1327T>C MANE Select | ENSP00000245407.3:p.Phe443Leu | |
| ENST00000245407.7:c.1327T>C | ENSP00000245407.3:p.Phe443Leu | |
| ENST00000435065.6:c.1399T>C | ENSP00000402760.2:p.Phe467Leu | |
| ENST00000447841.5:c.171T>C | ||
| ENST00000448810.5:c.589T>C | ||
| ENST00000461013.5:n.8749T>C | ||
| ENST00000475308.1:n.2005T>C | ||
| ENST00000479605.5:n.430T>C | ||
| NM_001308122.1:c.1399T>C | NP_001295051.1:p.Phe467Leu | |
| NM_003060.3:c.1327T>C | NP_003051.1:p.Phe443Leu | |
| XM_011543590.1:c.709T>C | XP_011541892.1:p.Phe237Leu | |
| XR_948290.1:n.1453T>C | ||
| XM_011543590.2:c.709T>C | XP_011541892.1:p.Phe237Leu | |
| XM_017009778.2:c.799T>C | XP_016865267.1:p.Phe267Leu | |
| XR_001742215.1:n.1582T>C | ||
| XR_001742216.1:n.1601T>C | ||
| XR_427718.2:n.1687T>C | ||
| XR_948290.2:n.1453T>C | ||
| XR_948291.2:n.1681T>C | ||
| NM_003060.4:c.1327T>C MANE Select | NP_003051.1:p.Phe443Leu | |
| NM_001308122.2:c.1399T>C | NP_001295051.1:p.Phe467Leu |