Linked Data
ClinVar Variation Id:
2693236
ClinVar RCV Id:
RCV003535045
dbSNP Id:
rs2149843410
MyVariant Identifiers:
chr5:g.112170794C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112835097C>G , CM000667.2:g.112835097C>G | GRCh38 |
| NC_000005.9:g.112170794C>G , CM000667.1:g.112170794C>G | GRCh37 |
| NC_000005.8:g.112198693C>G | NCBI36 |
| NG_008481.4:g.147577C>G , LRG_130:g.147577C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1555C>G | ENSP00000484935.2:n.1555C>G | |
| ENST00000504915.3:c.1944C>G | ENSP00000473355.2:p.Ala648= | |
| ENST00000505350.2:c.*1896C>G | ENSP00000481752.1:n.*1896C>G | |
| ENST00000507379.6:c.1836C>G | ENSP00000423224.2:p.Ala612= | |
| ENST00000509732.6:c.1890C>G | ENSP00000426541.2:p.Ala630= | |
| ENST00000512211.7:c.1890C>G | ENSP00000423828.3:p.Ala630= | |
| ENST00000257430.9:c.1890C>G MANE Select | ENSP00000257430.4:p.Ala630= | |
| ENST00000257430.8:c.1890C>G | ENSP00000257430.4:p.Ala630= | |
| ENST00000502371.2:c.243C>G | ||
| ENST00000504915.2:c.579C>G | ENSP00000473355.1:p.Ala193= | |
| ENST00000507379.5:c.1836C>G | ENSP00000423224.1:p.Ala612= | |
| ENST00000508376.6:c.1890C>G | ENSP00000427089.2:p.Ala630= | |
| ENST00000508624.5:c.*1212C>G | ENSP00000424265.1:n.*1212C>G | |
| ENST00000512211.6:c.1890C>G | ENSP00000423828.2:p.Ala630= | |
| ENST00000520401.1:c.230+6125C>G | ||
| NM_000038.5:c.1890C>G | NP_000029.2:p.Ala630= | |
| NM_001127510.2:c.1890C>G | NP_001120982.1:p.Ala630= | |
| NM_001127511.2:c.1836C>G | NP_001120983.2:p.Ala612= | |
| NM_001354895.1:c.1890C>G | NP_001341824.1:p.Ala630= | |
| NM_001354896.1:c.1944C>G | NP_001341825.1:p.Ala648= | |
| NM_001354897.1:c.1920C>G | NP_001341826.1:p.Ala640= | |
| NM_001354898.1:c.1815C>G | NP_001341827.1:p.Ala605= | |
| NM_001354899.1:c.1806C>G | NP_001341828.1:p.Ala602= | |
| NM_001354900.1:c.1767C>G | NP_001341829.1:p.Ala589= | |
| NM_001354901.1:c.1713C>G | NP_001341830.1:p.Ala571= | |
| NM_001354902.1:c.1617C>G | NP_001341831.1:p.Ala539= | |
| NM_001354903.1:c.1587C>G | NP_001341832.1:p.Ala529= | |
| NM_001354904.1:c.1512C>G | NP_001341833.1:p.Ala504= | |
| NM_001354905.1:c.1410C>G | NP_001341834.1:p.Ala470= | |
| NM_001354906.1:c.1041C>G | NP_001341835.1:p.Ala347= | |
| NM_000038.6:c.1890C>G MANE Select | NP_000029.2:p.Ala630= | |
| NM_001127510.3:c.1890C>G | NP_001120982.1:p.Ala630= | |
| NM_001127511.3:c.1836C>G | NP_001120983.2:p.Ala612= | |
| NM_001354895.2:c.1890C>G | NP_001341824.1:p.Ala630= | |
| NM_001354896.2:c.1944C>G | NP_001341825.1:p.Ala648= | |
| NM_001354897.2:c.1920C>G | NP_001341826.1:p.Ala640= | |
| NM_001354898.2:c.1815C>G | NP_001341827.1:p.Ala605= | |
| NM_001354899.2:c.1806C>G | NP_001341828.1:p.Ala602= | |
| NM_001354900.2:c.1767C>G | NP_001341829.1:p.Ala589= | |
| NM_001354901.2:c.1713C>G | NP_001341830.1:p.Ala571= | |
| NM_001354902.2:c.1617C>G | NP_001341831.1:p.Ala539= | |
| NM_001354903.2:c.1587C>G | NP_001341832.1:p.Ala529= | |
| NM_001354904.2:c.1512C>G | NP_001341833.1:p.Ala504= | |
| NM_001354905.2:c.1410C>G | NP_001341834.1:p.Ala470= | |
| NM_001354906.2:c.1041C>G | NP_001341835.1:p.Ala347= |