Linked Data
ClinVar Variation Id:
127284
dbSNP Id:
rs587779786
gnomAD v4:
5-112838682-A-T
COSMIC:
COSM1245175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838682A>T , CM000667.2:g.112838682A>T | GRCh38 |
| NC_000005.9:g.112174379A>T , CM000667.1:g.112174379A>T | GRCh37 |
| NC_000005.8:g.112202278A>T | NCBI36 |
| NG_008481.4:g.151162A>T , LRG_130:g.151162A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.2753A>T | ENSP00000484935.2:n.2753A>T | |
| ENST00000504915.3:c.3142A>T | ENSP00000473355.2:p.Lys1048Ter | |
| ENST00000505350.2:c.*3094A>T | ENSP00000481752.1:n.*3094A>T | |
| ENST00000507379.6:c.3034A>T | ENSP00000423224.2:p.Lys1012Ter | |
| ENST00000509732.6:c.3088A>T | ENSP00000426541.2:p.Lys1030Ter | |
| ENST00000512211.7:c.3088A>T | ENSP00000423828.3:p.Lys1030Ter | |
| ENST00000257430.9:c.3088A>T MANE Select | ENSP00000257430.4:p.Lys1030Ter | |
| ENST00000257430.8:c.3088A>T | ENSP00000257430.4:p.Lys1030Ter | |
| ENST00000502371.2:c.1441A>T | ||
| ENST00000507379.5:c.3034A>T | ENSP00000423224.1:p.Lys1012Ter | |
| ENST00000508376.6:c.3088A>T | ENSP00000427089.2:p.Lys1030Ter | |
| ENST00000508624.5:c.*2410A>T | ENSP00000424265.1:n.*2410A>T | |
| ENST00000512211.6:c.3088A>T | ENSP00000423828.2:p.Lys1030Ter | |
| ENST00000520401.1:c.230+9710A>T | ||
| NM_000038.5:c.3088A>T | NP_000029.2:p.Lys1030Ter | |
| NM_001127510.2:c.3088A>T | NP_001120982.1:p.Lys1030Ter | |
| NM_001127511.2:c.3034A>T | NP_001120983.2:p.Lys1012Ter | |
| NM_001354895.1:c.3088A>T | NP_001341824.1:p.Lys1030Ter | |
| NM_001354896.1:c.3142A>T | NP_001341825.1:p.Lys1048Ter | |
| NM_001354897.1:c.3118A>T | NP_001341826.1:p.Lys1040Ter | |
| NM_001354898.1:c.3013A>T | NP_001341827.1:p.Lys1005Ter | |
| NM_001354899.1:c.3004A>T | NP_001341828.1:p.Lys1002Ter | |
| NM_001354900.1:c.2965A>T | NP_001341829.1:p.Lys989Ter | |
| NM_001354901.1:c.2911A>T | NP_001341830.1:p.Lys971Ter | |
| NM_001354902.1:c.2815A>T | NP_001341831.1:p.Lys939Ter | |
| NM_001354903.1:c.2785A>T | NP_001341832.1:p.Lys929Ter | |
| NM_001354904.1:c.2710A>T | NP_001341833.1:p.Lys904Ter | |
| NM_001354905.1:c.2608A>T | NP_001341834.1:p.Lys870Ter | |
| NM_001354906.1:c.2239A>T | NP_001341835.1:p.Lys747Ter | |
| NM_000038.6:c.3088A>T MANE Select | NP_000029.2:p.Lys1030Ter | |
| NM_001127510.3:c.3088A>T | NP_001120982.1:p.Lys1030Ter | |
| NM_001127511.3:c.3034A>T | NP_001120983.2:p.Lys1012Ter | |
| NM_001354895.2:c.3088A>T | NP_001341824.1:p.Lys1030Ter | |
| NM_001354896.2:c.3142A>T | NP_001341825.1:p.Lys1048Ter | |
| NM_001354897.2:c.3118A>T | NP_001341826.1:p.Lys1040Ter | |
| NM_001354898.2:c.3013A>T | NP_001341827.1:p.Lys1005Ter | |
| NM_001354899.2:c.3004A>T | NP_001341828.1:p.Lys1002Ter | |
| NM_001354900.2:c.2965A>T | NP_001341829.1:p.Lys989Ter | |
| NM_001354901.2:c.2911A>T | NP_001341830.1:p.Lys971Ter | |
| NM_001354902.2:c.2815A>T | NP_001341831.1:p.Lys939Ter | |
| NM_001354903.2:c.2785A>T | NP_001341832.1:p.Lys929Ter | |
| NM_001354904.2:c.2710A>T | NP_001341833.1:p.Lys904Ter | |
| NM_001354905.2:c.2608A>T | NP_001341834.1:p.Lys870Ter | |
| NM_001354906.2:c.2239A>T | NP_001341835.1:p.Lys747Ter |