Linked Data
ClinVar Variation Id:
142246
dbSNP Id:
rs373440614
ExAC:
5:112176209 C / T
gnomAD v2:
5-112176209-C-T
gnomAD v3:
5-112840512-C-T
gnomAD v4:
5-112840512-C-T
COSMIC:
COSM4127116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840512C>T , CM000667.2:g.112840512C>T | GRCh38 |
| NC_000005.9:g.112176209C>T , CM000667.1:g.112176209C>T | GRCh37 |
| NC_000005.8:g.112204108C>T | NCBI36 |
| NG_008481.4:g.152992C>T , LRG_130:g.152992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.4972C>T | ENSP00000473355.2:p.Arg1658Trp | |
| ENST00000505350.2:c.*4924C>T | ENSP00000481752.1:n.*4924C>T | |
| ENST00000507379.6:c.4864C>T | ENSP00000423224.2:p.Arg1622Trp | |
| ENST00000509732.6:c.4918C>T | ENSP00000426541.2:p.Arg1640Trp | |
| ENST00000512211.7:c.4918C>T | ENSP00000423828.3:p.Arg1640Trp | |
| ENST00000257430.9:c.4918C>T MANE Select | ENSP00000257430.4:p.Arg1640Trp | |
| ENST00000257430.8:c.4918C>T | ENSP00000257430.4:p.Arg1640Trp | |
| ENST00000508376.6:c.4918C>T | ENSP00000427089.2:p.Arg1640Trp | |
| ENST00000508624.5:c.*4240C>T | ENSP00000424265.1:n.*4240C>T | |
| ENST00000520401.1:c.230+11540C>T | ||
| NM_000038.5:c.4918C>T | NP_000029.2:p.Arg1640Trp | |
| NM_001127510.2:c.4918C>T | NP_001120982.1:p.Arg1640Trp | |
| NM_001127511.2:c.4864C>T | NP_001120983.2:p.Arg1622Trp | |
| NM_001354895.1:c.4918C>T | NP_001341824.1:p.Arg1640Trp | |
| NM_001354896.1:c.4972C>T | NP_001341825.1:p.Arg1658Trp | |
| NM_001354897.1:c.4948C>T | NP_001341826.1:p.Arg1650Trp | |
| NM_001354898.1:c.4843C>T | NP_001341827.1:p.Arg1615Trp | |
| NM_001354899.1:c.4834C>T | NP_001341828.1:p.Arg1612Trp | |
| NM_001354900.1:c.4795C>T | NP_001341829.1:p.Arg1599Trp | |
| NM_001354901.1:c.4741C>T | NP_001341830.1:p.Arg1581Trp | |
| NM_001354902.1:c.4645C>T | NP_001341831.1:p.Arg1549Trp | |
| NM_001354903.1:c.4615C>T | NP_001341832.1:p.Arg1539Trp | |
| NM_001354904.1:c.4540C>T | NP_001341833.1:p.Arg1514Trp | |
| NM_001354905.1:c.4438C>T | NP_001341834.1:p.Arg1480Trp | |
| NM_001354906.1:c.4069C>T | NP_001341835.1:p.Arg1357Trp | |
| NM_000038.6:c.4918C>T MANE Select | NP_000029.2:p.Arg1640Trp | |
| NM_001127510.3:c.4918C>T | NP_001120982.1:p.Arg1640Trp | |
| NM_001127511.3:c.4864C>T | NP_001120983.2:p.Arg1622Trp | |
| NM_001354895.2:c.4918C>T | NP_001341824.1:p.Arg1640Trp | |
| NM_001354896.2:c.4972C>T | NP_001341825.1:p.Arg1658Trp | |
| NM_001354897.2:c.4948C>T | NP_001341826.1:p.Arg1650Trp | |
| NM_001354898.2:c.4843C>T | NP_001341827.1:p.Arg1615Trp | |
| NM_001354899.2:c.4834C>T | NP_001341828.1:p.Arg1612Trp | |
| NM_001354900.2:c.4795C>T | NP_001341829.1:p.Arg1599Trp | |
| NM_001354901.2:c.4741C>T | NP_001341830.1:p.Arg1581Trp | |
| NM_001354902.2:c.4645C>T | NP_001341831.1:p.Arg1549Trp | |
| NM_001354903.2:c.4615C>T | NP_001341832.1:p.Arg1539Trp | |
| NM_001354904.2:c.4540C>T | NP_001341833.1:p.Arg1514Trp | |
| NM_001354905.2:c.4438C>T | NP_001341834.1:p.Arg1480Trp | |
| NM_001354906.2:c.4069C>T | NP_001341835.1:p.Arg1357Trp |