MyVariant.info:
GRCh37
chr5:g.112175521C>T
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839824C>T , CM000667.2:g.112839824C>T | GRCh38 |
| NC_000005.9:g.112175521C>T , CM000667.1:g.112175521C>T | GRCh37 |
| NC_000005.8:g.112203420C>T | NCBI36 |
| NG_008481.4:g.152304C>T , LRG_130:g.152304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3895C>T | ENSP00000484935.2:n.3895C>T | |
| ENST00000504915.3:c.4284C>T | ENSP00000473355.2:p.Cys1428= | |
| ENST00000505350.2:c.*4236C>T | ENSP00000481752.1:n.*4236C>T | |
| ENST00000507379.6:c.4176C>T | ENSP00000423224.2:p.Cys1392= | |
| ENST00000509732.6:c.4230C>T | ENSP00000426541.2:p.Cys1410= | |
| ENST00000512211.7:c.4230C>T | ENSP00000423828.3:p.Cys1410= | |
| ENST00000257430.9:c.4230C>T MANE Select | ENSP00000257430.4:p.Cys1410= | |
| ENST00000257430.8:c.4230C>T | ENSP00000257430.4:p.Cys1410= | |
| ENST00000502371.2:c.2583C>T | ||
| ENST00000508376.6:c.4230C>T | ENSP00000427089.2:p.Cys1410= | |
| ENST00000508624.5:c.*3552C>T | ENSP00000424265.1:n.*3552C>T | |
| ENST00000520401.1:c.230+10852C>T | ||
| NM_000038.5:c.4230C>T | NP_000029.2:p.Cys1410= | |
| NM_001127510.2:c.4230C>T | NP_001120982.1:p.Cys1410= | |
| NM_001127511.2:c.4176C>T | NP_001120983.2:p.Cys1392= | |
| NM_001354895.1:c.4230C>T | NP_001341824.1:p.Cys1410= | |
| NM_001354896.1:c.4284C>T | NP_001341825.1:p.Cys1428= | |
| NM_001354897.1:c.4260C>T | NP_001341826.1:p.Cys1420= | |
| NM_001354898.1:c.4155C>T | NP_001341827.1:p.Cys1385= | |
| NM_001354899.1:c.4146C>T | NP_001341828.1:p.Cys1382= | |
| NM_001354900.1:c.4107C>T | NP_001341829.1:p.Cys1369= | |
| NM_001354901.1:c.4053C>T | NP_001341830.1:p.Cys1351= | |
| NM_001354902.1:c.3957C>T | NP_001341831.1:p.Cys1319= | |
| NM_001354903.1:c.3927C>T | NP_001341832.1:p.Cys1309= | |
| NM_001354904.1:c.3852C>T | NP_001341833.1:p.Cys1284= | |
| NM_001354905.1:c.3750C>T | NP_001341834.1:p.Cys1250= | |
| NM_001354906.1:c.3381C>T | NP_001341835.1:p.Cys1127= | |
| NM_000038.6:c.4230C>T MANE Select | NP_000029.2:p.Cys1410= | |
| NM_001127510.3:c.4230C>T | NP_001120982.1:p.Cys1410= | |
| NM_001127511.3:c.4176C>T | NP_001120983.2:p.Cys1392= | |
| NM_001354895.2:c.4230C>T | NP_001341824.1:p.Cys1410= | |
| NM_001354896.2:c.4284C>T | NP_001341825.1:p.Cys1428= | |
| NM_001354897.2:c.4260C>T | NP_001341826.1:p.Cys1420= | |
| NM_001354898.2:c.4155C>T | NP_001341827.1:p.Cys1385= | |
| NM_001354899.2:c.4146C>T | NP_001341828.1:p.Cys1382= | |
| NM_001354900.2:c.4107C>T | NP_001341829.1:p.Cys1369= | |
| NM_001354901.2:c.4053C>T | NP_001341830.1:p.Cys1351= | |
| NM_001354902.2:c.3957C>T | NP_001341831.1:p.Cys1319= | |
| NM_001354903.2:c.3927C>T | NP_001341832.1:p.Cys1309= | |
| NM_001354904.2:c.3852C>T | NP_001341833.1:p.Cys1284= | |
| NM_001354905.2:c.3750C>T | NP_001341834.1:p.Cys1250= | |
| NM_001354906.2:c.3381C>T | NP_001341835.1:p.Cys1127= |