Linked Data
ClinVar Variation Id:
963976
ClinVar RCV Id:
RCV001238103
dbSNP Id:
rs563142575
gnomAD v4:
5-132393772-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393772C>T , CM000667.2:g.132393772C>T | GRCh38 |
| NC_000005.9:g.131729464C>T , CM000667.1:g.131729464C>T | GRCh37 |
| NC_000005.8:g.131757363C>T | NCBI36 |
| NG_008982.1:g.29064C>T | |
| NG_008982.2:g.29069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-413C>T | ENSP00000388838.2:n.1292-413C>T | |
| ENST00000435065.7:c.1619C>T | ENSP00000402760.2:p.Pro540Leu | |
| ENST00000448810.6:c.*399C>T | ENSP00000401860.2:n.*399C>T | |
| ENST00000685543.1:n.1688C>T | ||
| ENST00000686757.1:c.*711C>T | ENSP00000510721.1:n.*711C>T | |
| ENST00000686868.1:n.539C>T | ||
| ENST00000687740.1:n.4232C>T | ||
| ENST00000688151.1:n.2857C>T | ||
| ENST00000689271.1:c.1394C>T | ENSP00000510797.1:p.Pro465Leu | |
| ENST00000690900.1:c.*711C>T | ENSP00000510703.1:n.*711C>T | |
| ENST00000692212.1:n.4687C>T | ||
| ENST00000692355.1:c.800C>T | ||
| ENST00000692413.1:c.1529C>T | ENSP00000509374.1:p.Pro510Leu | |
| ENST00000692825.1:c.1615C>T | ENSP00000509447.1:n.1615C>T | |
| ENST00000693308.1:c.1595C>T | ENSP00000509770.1:p.Pro532Leu | |
| ENST00000693763.1:n.2707C>T | ||
| ENST00000245407.8:c.1547C>T MANE Select | ENSP00000245407.3:p.Pro516Leu | |
| ENST00000245407.7:c.1547C>T | ENSP00000245407.3:p.Pro516Leu | |
| ENST00000435065.6:c.1619C>T | ENSP00000402760.2:p.Pro540Leu | |
| ENST00000447841.5:c.391C>T | ||
| ENST00000448810.5:c.809C>T | ||
| ENST00000461013.5:n.8969C>T | ||
| ENST00000475308.1:n.2225C>T | ||
| NM_001308122.1:c.1619C>T | NP_001295051.1:p.Pro540Leu | |
| NM_003060.3:c.1547C>T | NP_003051.1:p.Pro516Leu | |
| XM_011543590.1:c.929C>T | XP_011541892.1:p.Pro310Leu | |
| XR_948290.1:n.1673C>T | ||
| XM_011543590.2:c.929C>T | XP_011541892.1:p.Pro310Leu | |
| XM_017009778.2:c.1019C>T | XP_016865267.1:p.Pro340Leu | |
| XR_001742215.1:n.1802C>T | ||
| XR_001742216.1:n.1821C>T | ||
| XR_427718.2:n.1907C>T | ||
| XR_948290.2:n.1673C>T | ||
| XR_948291.2:n.1901C>T | ||
| NM_003060.4:c.1547C>T MANE Select | NP_003051.1:p.Pro516Leu | |
| NM_001308122.2:c.1619C>T | NP_001295051.1:p.Pro540Leu |