Linked Data
ClinVar Variation Id:
1602835
ClinVar RCV Id:
RCV002146841
dbSNP Id:
rs1325105843
gnomAD v2:
5-131729480-T-C
gnomAD v3:
5-132393788-T-C
gnomAD v4:
5-132393788-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393788T>C , CM000667.2:g.132393788T>C | GRCh38 |
| NC_000005.9:g.131729480T>C , CM000667.1:g.131729480T>C | GRCh37 |
| NC_000005.8:g.131757379T>C | NCBI36 |
| NG_008982.1:g.29080T>C | |
| NG_008982.2:g.29085T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-397T>C | ENSP00000388838.2:n.1292-397T>C | |
| ENST00000435065.7:c.1635T>C | ENSP00000402760.2:p.Ile545= | |
| ENST00000448810.6:c.*415T>C | ENSP00000401860.2:n.*415T>C | |
| ENST00000685543.1:n.1704T>C | ||
| ENST00000686757.1:c.*727T>C | ENSP00000510721.1:n.*727T>C | |
| ENST00000686868.1:n.555T>C | ||
| ENST00000687740.1:n.4248T>C | ||
| ENST00000688151.1:n.2873T>C | ||
| ENST00000689271.1:c.1410T>C | ENSP00000510797.1:p.Ile470= | |
| ENST00000690900.1:c.*727T>C | ENSP00000510703.1:n.*727T>C | |
| ENST00000692212.1:n.4703T>C | ||
| ENST00000692355.1:c.816T>C | ||
| ENST00000692413.1:c.1545T>C | ENSP00000509374.1:p.Ile515= | |
| ENST00000692825.1:c.1631T>C | ENSP00000509447.1:n.1631T>C | |
| ENST00000693308.1:c.1611T>C | ENSP00000509770.1:p.Ile537= | |
| ENST00000693763.1:n.2723T>C | ||
| ENST00000245407.8:c.1563T>C MANE Select | ENSP00000245407.3:p.Ile521= | |
| ENST00000245407.7:c.1563T>C | ENSP00000245407.3:p.Ile521= | |
| ENST00000435065.6:c.1635T>C | ENSP00000402760.2:p.Ile545= | |
| ENST00000447841.5:c.407T>C | ||
| ENST00000448810.5:c.825T>C | ||
| ENST00000461013.5:n.8985T>C | ||
| ENST00000475308.1:n.2241T>C | ||
| NM_001308122.1:c.1635T>C | NP_001295051.1:p.Ile545= | |
| NM_003060.3:c.1563T>C | NP_003051.1:p.Ile521= | |
| XM_011543590.1:c.945T>C | XP_011541892.1:p.Ile315= | |
| XR_948290.1:n.1689T>C | ||
| XM_011543590.2:c.945T>C | XP_011541892.1:p.Ile315= | |
| XM_017009778.2:c.1035T>C | XP_016865267.1:p.Ile345= | |
| XR_001742215.1:n.1818T>C | ||
| XR_001742216.1:n.1837T>C | ||
| XR_427718.2:n.1923T>C | ||
| XR_948290.2:n.1689T>C | ||
| XR_948291.2:n.1917T>C | ||
| NM_003060.4:c.1563T>C MANE Select | NP_003051.1:p.Ile521= | |
| NM_001308122.2:c.1635T>C | NP_001295051.1:p.Ile545= |