Linked Data
ClinVar Variation Id:
825292
dbSNP Id:
rs1580654177
MyVariant Identifiers:
chr5:g.112176211G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840514G>T , CM000667.2:g.112840514G>T | GRCh38 |
| NC_000005.9:g.112176211G>T , CM000667.1:g.112176211G>T | GRCh37 |
| NC_000005.8:g.112204110G>T | NCBI36 |
| NG_008481.4:g.152994G>T , LRG_130:g.152994G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4974G>T | ENSP00000473355.2:p.Arg1658= | |
| ENST00000505350.2:c.*4926G>T | ENSP00000481752.1:n.*4926G>T | |
| ENST00000507379.6:c.4866G>T | ENSP00000423224.2:p.Arg1622= | |
| ENST00000509732.6:c.4920G>T | ENSP00000426541.2:p.Arg1640= | |
| ENST00000512211.7:c.4920G>T | ENSP00000423828.3:p.Arg1640= | |
| ENST00000257430.9:c.4920G>T MANE Select | ENSP00000257430.4:p.Arg1640= | |
| ENST00000257430.8:c.4920G>T | ENSP00000257430.4:p.Arg1640= | |
| ENST00000508376.6:c.4920G>T | ENSP00000427089.2:p.Arg1640= | |
| ENST00000508624.5:c.*4242G>T | ENSP00000424265.1:n.*4242G>T | |
| ENST00000520401.1:c.230+11542G>T | ||
| NM_000038.5:c.4920G>T | NP_000029.2:p.Arg1640= | |
| NM_001127510.2:c.4920G>T | NP_001120982.1:p.Arg1640= | |
| NM_001127511.2:c.4866G>T | NP_001120983.2:p.Arg1622= | |
| NM_001354895.1:c.4920G>T | NP_001341824.1:p.Arg1640= | |
| NM_001354896.1:c.4974G>T | NP_001341825.1:p.Arg1658= | |
| NM_001354897.1:c.4950G>T | NP_001341826.1:p.Arg1650= | |
| NM_001354898.1:c.4845G>T | NP_001341827.1:p.Arg1615= | |
| NM_001354899.1:c.4836G>T | NP_001341828.1:p.Arg1612= | |
| NM_001354900.1:c.4797G>T | NP_001341829.1:p.Arg1599= | |
| NM_001354901.1:c.4743G>T | NP_001341830.1:p.Arg1581= | |
| NM_001354902.1:c.4647G>T | NP_001341831.1:p.Arg1549= | |
| NM_001354903.1:c.4617G>T | NP_001341832.1:p.Arg1539= | |
| NM_001354904.1:c.4542G>T | NP_001341833.1:p.Arg1514= | |
| NM_001354905.1:c.4440G>T | NP_001341834.1:p.Arg1480= | |
| NM_001354906.1:c.4071G>T | NP_001341835.1:p.Arg1357= | |
| NM_000038.6:c.4920G>T MANE Select | NP_000029.2:p.Arg1640= | |
| NM_001127510.3:c.4920G>T | NP_001120982.1:p.Arg1640= | |
| NM_001127511.3:c.4866G>T | NP_001120983.2:p.Arg1622= | |
| NM_001354895.2:c.4920G>T | NP_001341824.1:p.Arg1640= | |
| NM_001354896.2:c.4974G>T | NP_001341825.1:p.Arg1658= | |
| NM_001354897.2:c.4950G>T | NP_001341826.1:p.Arg1650= | |
| NM_001354898.2:c.4845G>T | NP_001341827.1:p.Arg1615= | |
| NM_001354899.2:c.4836G>T | NP_001341828.1:p.Arg1612= | |
| NM_001354900.2:c.4797G>T | NP_001341829.1:p.Arg1599= | |
| NM_001354901.2:c.4743G>T | NP_001341830.1:p.Arg1581= | |
| NM_001354902.2:c.4647G>T | NP_001341831.1:p.Arg1549= | |
| NM_001354903.2:c.4617G>T | NP_001341832.1:p.Arg1539= | |
| NM_001354904.2:c.4542G>T | NP_001341833.1:p.Arg1514= | |
| NM_001354905.2:c.4440G>T | NP_001341834.1:p.Arg1480= | |
| NM_001354906.2:c.4071G>T | NP_001341835.1:p.Arg1357= |