Linked Data
ClinVar Variation Id:
161500
ClinVar RCV Id:
RCV000149034
dbSNP Id:
rs193920959
ExAC:
6:151152540 C / T
gnomAD v2:
6-151152540-C-T
gnomAD v3:
6-150831404-C-T
gnomAD v4:
6-150831404-C-T
COSMIC:
COSM1178729
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150831404C>T , CM000668.2:g.150831404C>T | GRCh38 |
| NC_000006.11:g.151152540C>T , CM000668.1:g.151152540C>T | GRCh37 |
| NC_000006.10:g.151194233C>T | NCBI36 |
| NG_051299.1:g.236542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696526.1:c.2293C>T MANE Select | ENSP00000512689.1:p.Arg765Trp | |
| ENST00000644968.1:c.2293C>T | ENSP00000496254.1:p.Arg765Trp | |
| ENST00000358517.6:c.2293C>T | ENSP00000351318.2:p.Arg765Trp | |
| ENST00000367328.5:c.2293C>T | ENSP00000356297.1:p.Arg765Trp | |
| ENST00000475490.1:c.1157+677C>T | ENSP00000433107.1:n.1157+677C>T | |
| NM_001029884.1:c.2293C>T | NP_001025055.1:p.Arg765Trp | |
| XM_005267064.2:c.2470C>T | XP_005267121.1:p.Arg824Trp | |
| XM_005267065.2:c.2293C>T | XP_005267122.1:p.Arg765Trp | |
| XM_005267066.1:c.2293C>T | XP_005267123.1:p.Arg765Trp | |
| XM_006715521.1:c.2293C>T | XP_006715584.1:p.Arg765Trp | |
| XM_006715522.2:c.2293C>T | XP_006715585.1:p.Arg765Trp | |
| XM_011535981.1:c.2509C>T | XP_011534283.1:p.Arg837Trp | |
| XM_011535982.1:c.2470C>T | XP_011534284.1:p.Arg824Trp | |
| XM_011535983.1:c.2293C>T | XP_011534285.1:p.Arg765Trp | |
| NM_001029884.2:c.2293C>T | NP_001025055.1:p.Arg765Trp | |
| NM_001329798.1:c.2470C>T | NP_001316727.1:p.Arg824Trp | |
| NM_001329799.1:c.2413C>T | NP_001316728.1:p.Arg805Trp | |
| NM_001329800.1:c.2293C>T | NP_001316729.1:p.Arg765Trp | |
| NM_001329801.1:c.2293C>T | NP_001316730.1:p.Arg765Trp | |
| NM_001329802.1:c.2254C>T | NP_001316731.1:p.Arg752Trp | |
| NM_001329803.1:c.2176C>T | NP_001316732.1:p.Arg726Trp | |
| NM_001329804.1:c.1616+677C>T | NP_001316733.1:n.1616+677C>T | |
| NM_001329805.1:c.1616+677C>T | NP_001316734.1:n.1616+677C>T | |
| NM_001329806.1:c.1616+677C>T | NP_001316735.1:n.1616+677C>T | |
| NM_001029884.3:c.2293C>T MANE Select | NP_001025055.1:p.Arg765Trp | |
| NM_001329798.2:c.2470C>T | NP_001316727.1:p.Arg824Trp | |
| NM_001329799.2:c.2413C>T | NP_001316728.1:p.Arg805Trp | |
| NM_001329800.2:c.2293C>T | NP_001316729.1:p.Arg765Trp | |
| NM_001329801.2:c.2293C>T | NP_001316730.1:p.Arg765Trp | |
| NM_001329802.2:c.2254C>T | NP_001316731.1:p.Arg752Trp | |
| NM_001329803.2:c.2176C>T | NP_001316732.1:p.Arg726Trp | |
| NM_001329804.2:c.1616+677C>T | NP_001316733.1:n.1616+677C>T | |
| NM_001329805.2:c.1616+677C>T | NP_001316734.1:n.1616+677C>T | |
| NM_001329806.2:c.1616+677C>T | NP_001316735.1:n.1616+677C>T |