Linked Data
ClinVar Variation Id:
1508785
ClinVar RCV Id:
RCV002016355
dbSNP Id:
rs1256876367
gnomAD v3:
5-132393770-C-G
gnomAD v4:
5-132393770-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393770C>G , CM000667.2:g.132393770C>G | GRCh38 |
| NC_000005.9:g.131729462C>G , CM000667.1:g.131729462C>G | GRCh37 |
| NC_000005.8:g.131757361C>G | NCBI36 |
| NG_008982.1:g.29062C>G | |
| NG_008982.2:g.29067C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-415C>G | ENSP00000388838.2:n.1292-415C>G | |
| ENST00000435065.7:c.1617C>G | ENSP00000402760.2:p.Thr539= | |
| ENST00000448810.6:c.*397C>G | ENSP00000401860.2:n.*397C>G | |
| ENST00000685543.1:n.1686C>G | ||
| ENST00000686757.1:c.*709C>G | ENSP00000510721.1:n.*709C>G | |
| ENST00000686868.1:n.537C>G | ||
| ENST00000687740.1:n.4230C>G | ||
| ENST00000688151.1:n.2855C>G | ||
| ENST00000689271.1:c.1392C>G | ENSP00000510797.1:p.Thr464= | |
| ENST00000690900.1:c.*709C>G | ENSP00000510703.1:n.*709C>G | |
| ENST00000692212.1:n.4685C>G | ||
| ENST00000692355.1:c.798C>G | ||
| ENST00000692413.1:c.1527C>G | ENSP00000509374.1:p.Thr509= | |
| ENST00000692825.1:c.1613C>G | ENSP00000509447.1:n.1613C>G | |
| ENST00000693308.1:c.1593C>G | ENSP00000509770.1:p.Thr531= | |
| ENST00000693763.1:n.2705C>G | ||
| ENST00000245407.8:c.1545C>G MANE Select | ENSP00000245407.3:p.Thr515= | |
| ENST00000245407.7:c.1545C>G | ENSP00000245407.3:p.Thr515= | |
| ENST00000435065.6:c.1617C>G | ENSP00000402760.2:p.Thr539= | |
| ENST00000447841.5:c.389C>G | ||
| ENST00000448810.5:c.807C>G | ||
| ENST00000461013.5:n.8967C>G | ||
| ENST00000475308.1:n.2223C>G | ||
| NM_001308122.1:c.1617C>G | NP_001295051.1:p.Thr539= | |
| NM_003060.3:c.1545C>G | NP_003051.1:p.Thr515= | |
| XM_011543590.1:c.927C>G | XP_011541892.1:p.Thr309= | |
| XR_948290.1:n.1671C>G | ||
| XM_011543590.2:c.927C>G | XP_011541892.1:p.Thr309= | |
| XM_017009778.2:c.1017C>G | XP_016865267.1:p.Thr339= | |
| XR_001742215.1:n.1800C>G | ||
| XR_001742216.1:n.1819C>G | ||
| XR_427718.2:n.1905C>G | ||
| XR_948290.2:n.1671C>G | ||
| XR_948291.2:n.1899C>G | ||
| NM_003060.4:c.1545C>G MANE Select | NP_003051.1:p.Thr515= | |
| NM_001308122.2:c.1617C>G | NP_001295051.1:p.Thr539= |