Linked Data
ClinVar Variation Id:
756830
ClinVar RCV Id:
RCV000934361
dbSNP Id:
rs1580895743
gnomAD v3:
5-132393693-C-T
gnomAD v4:
5-132393693-C-T
MyVariant Identifiers:
chr5:g.131729385C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393693C>T , CM000667.2:g.132393693C>T | GRCh38 |
| NC_000005.9:g.131729385C>T , CM000667.1:g.131729385C>T | GRCh37 |
| NC_000005.8:g.131757284C>T | NCBI36 |
| NG_008982.1:g.28985C>T | |
| NG_008982.2:g.28990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-492C>T | ENSP00000388838.2:n.1292-492C>T | |
| ENST00000435065.7:c.1540C>T | ENSP00000402760.2:p.Leu514= | |
| ENST00000448810.6:c.*320C>T | ENSP00000401860.2:n.*320C>T | |
| ENST00000685543.1:n.1609C>T | ||
| ENST00000686757.1:c.*632C>T | ENSP00000510721.1:n.*632C>T | |
| ENST00000686868.1:n.460C>T | ||
| ENST00000687740.1:n.4153C>T | ||
| ENST00000688151.1:n.2778C>T | ||
| ENST00000689271.1:c.1315C>T | ENSP00000510797.1:p.Leu439= | |
| ENST00000690900.1:c.*632C>T | ENSP00000510703.1:n.*632C>T | |
| ENST00000692212.1:n.4608C>T | ||
| ENST00000692355.1:c.721C>T | ||
| ENST00000692413.1:c.1450C>T | ENSP00000509374.1:p.Leu484= | |
| ENST00000692825.1:c.1536C>T | ENSP00000509447.1:n.1536C>T | |
| ENST00000693308.1:c.1516C>T | ENSP00000509770.1:p.Leu506= | |
| ENST00000693763.1:n.2628C>T | ||
| ENST00000245407.8:c.1468C>T MANE Select | ENSP00000245407.3:p.Leu490= | |
| ENST00000245407.7:c.1468C>T | ENSP00000245407.3:p.Leu490= | |
| ENST00000435065.6:c.1540C>T | ENSP00000402760.2:p.Leu514= | |
| ENST00000447841.5:c.312C>T | ||
| ENST00000448810.5:c.730C>T | ||
| ENST00000461013.5:n.8890C>T | ||
| ENST00000475308.1:n.2146C>T | ||
| NM_001308122.1:c.1540C>T | NP_001295051.1:p.Leu514= | |
| NM_003060.3:c.1468C>T | NP_003051.1:p.Leu490= | |
| XM_011543590.1:c.850C>T | XP_011541892.1:p.Leu284= | |
| XR_948290.1:n.1594C>T | ||
| XM_011543590.2:c.850C>T | XP_011541892.1:p.Leu284= | |
| XM_017009778.2:c.940C>T | XP_016865267.1:p.Leu314= | |
| XR_001742215.1:n.1723C>T | ||
| XR_001742216.1:n.1742C>T | ||
| XR_427718.2:n.1828C>T | ||
| XR_948290.2:n.1594C>T | ||
| XR_948291.2:n.1822C>T | ||
| NM_003060.4:c.1468C>T MANE Select | NP_003051.1:p.Leu490= | |
| NM_001308122.2:c.1540C>T | NP_001295051.1:p.Leu514= |