Linked Data
ClinVar Variation Id:
497713
dbSNP Id:
rs200039061
ExAC:
2:178362466 C / T
gnomAD v2:
2-178362466-C-T
gnomAD v3:
2-177497738-C-T
gnomAD v4:
2-177497738-C-T
COSMIC:
COSM1401479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177497738C>T , CM000664.2:g.177497738C>T | GRCh38 |
| NC_000002.11:g.178362466C>T , CM000664.1:g.178362466C>T | GRCh37 |
| NC_000002.10:g.178070712C>T | NCBI36 |
| NG_008968.1:g.109996C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.1335C>T MANE Select | ENSP00000264167.4:p.Asp445= | |
| ENST00000637633.2:c.1335C>T | ENSP00000490844.2:p.Asp445= | |
| ENST00000642466.2:c.1335C>T | ENSP00000494433.2:p.Asp445= | |
| ENST00000679421.1:n.2564C>T | ||
| ENST00000679459.1:c.1335C>T | ENSP00000506137.1:p.Asp445= | |
| ENST00000679478.1:c.1065C>T | ENSP00000506484.1:p.Asp355= | |
| ENST00000679994.1:c.1065C>T | ENSP00000504957.1:p.Asp355= | |
| ENST00000680028.1:n.2699C>T | ||
| ENST00000680155.1:c.1065C>T | ENSP00000505333.1:p.Asp355= | |
| ENST00000680390.1:n.370C>T | ||
| ENST00000680705.1:n.1379C>T | ||
| ENST00000680770.1:c.1335C>T | ENSP00000505536.1:p.Asp445= | |
| ENST00000680893.1:c.*583C>T | ENSP00000505929.1:n.*583C>T | |
| ENST00000680910.1:n.1365C>T | ||
| ENST00000681028.1:c.1065C>T | ENSP00000506323.1:p.Asp355= | |
| ENST00000681032.1:c.*713C>T | ENSP00000505205.1:n.*713C>T | |
| ENST00000681300.1:n.290C>T | ||
| ENST00000681449.1:c.1065C>T | ENSP00000505342.1:p.Asp355= | |
| ENST00000681565.1:c.*468C>T | ENSP00000505620.1:n.*468C>T | |
| ENST00000681752.1:c.*1105C>T | ENSP00000504994.1:n.*1105C>T | |
| ENST00000681891.1:n.4970C>T | ||
| ENST00000264167.8:c.1335C>T | ENSP00000264167.4:p.Asp445= | |
| ENST00000409888.1:c.351-23591C>T | ENSP00000386688.1:n.351-23591C>T | |
| NM_003659.3:c.1335C>T | NP_003650.1:p.Asp445= | |
| XM_011512041.1:c.1065C>T | XP_011510343.1:p.Asp355= | |
| XM_011512042.1:c.1065C>T | XP_011510344.1:p.Asp355= | |
| XM_011512043.1:c.600C>T | XP_011510345.1:p.Asp200= | |
| XM_011512041.2:c.1065C>T | XP_011510343.1:p.Asp355= | |
| XM_011512043.2:c.600C>T | XP_011510345.1:p.Asp200= | |
| XR_001739007.2:n.1243C>T | ||
| NM_003659.4:c.1335C>T MANE Select | NP_003650.1:p.Asp445= |