Linked Data
ClinVar Variation Id:
1977102
ClinVar RCV Id:
RCV002736461
dbSNP Id:
rs11568521
gnomAD v4:
5-132393747-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393747T>C , CM000667.2:g.132393747T>C | GRCh38 |
| NC_000005.9:g.131729439T>C , CM000667.1:g.131729439T>C | GRCh37 |
| NC_000005.8:g.131757338T>C | NCBI36 |
| NG_008982.1:g.29039T>C | |
| NG_008982.2:g.29044T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-438T>C | ENSP00000388838.2:n.1292-438T>C | |
| ENST00000435065.7:c.1594T>C | ENSP00000402760.2:p.Phe532Leu | |
| ENST00000448810.6:c.*374T>C | ENSP00000401860.2:n.*374T>C | |
| ENST00000685543.1:n.1663T>C | ||
| ENST00000686757.1:c.*686T>C | ENSP00000510721.1:n.*686T>C | |
| ENST00000686868.1:n.514T>C | ||
| ENST00000687740.1:n.4207T>C | ||
| ENST00000688151.1:n.2832T>C | ||
| ENST00000689271.1:c.1369T>C | ENSP00000510797.1:p.Phe457Leu | |
| ENST00000690900.1:c.*686T>C | ENSP00000510703.1:n.*686T>C | |
| ENST00000692212.1:n.4662T>C | ||
| ENST00000692355.1:c.775T>C | ||
| ENST00000692413.1:c.1504T>C | ENSP00000509374.1:p.Phe502Leu | |
| ENST00000692825.1:c.1590T>C | ENSP00000509447.1:n.1590T>C | |
| ENST00000693308.1:c.1570T>C | ENSP00000509770.1:p.Phe524Leu | |
| ENST00000693763.1:n.2682T>C | ||
| ENST00000245407.8:c.1522T>C MANE Select | ENSP00000245407.3:p.Phe508Leu | |
| ENST00000245407.7:c.1522T>C | ENSP00000245407.3:p.Phe508Leu | |
| ENST00000435065.6:c.1594T>C | ENSP00000402760.2:p.Phe532Leu | |
| ENST00000447841.5:c.366T>C | ||
| ENST00000448810.5:c.784T>C | ||
| ENST00000461013.5:n.8944T>C | ||
| ENST00000475308.1:n.2200T>C | ||
| NM_001308122.1:c.1594T>C | NP_001295051.1:p.Phe532Leu | |
| NM_003060.3:c.1522T>C | NP_003051.1:p.Phe508Leu | |
| XM_011543590.1:c.904T>C | XP_011541892.1:p.Phe302Leu | |
| XR_948290.1:n.1648T>C | ||
| XM_011543590.2:c.904T>C | XP_011541892.1:p.Phe302Leu | |
| XM_017009778.2:c.994T>C | XP_016865267.1:p.Phe332Leu | |
| XR_001742215.1:n.1777T>C | ||
| XR_001742216.1:n.1796T>C | ||
| XR_427718.2:n.1882T>C | ||
| XR_948290.2:n.1648T>C | ||
| XR_948291.2:n.1876T>C | ||
| NM_003060.4:c.1522T>C MANE Select | NP_003051.1:p.Phe508Leu | |
| NM_001308122.2:c.1594T>C | NP_001295051.1:p.Phe532Leu |