Linked Data
dbSNP Id:
rs748994684
ExAC:
6:30691797 C / T
gnomAD v3:
6-30724020-C-T
gnomAD v4:
6-30724020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30724020C>T , CM000668.2:g.30724020C>T | GRCh38 |
| NC_000006.11:g.30691797C>T , CM000668.1:g.30691797C>T | GRCh37 |
| NC_000006.10:g.30799776C>T | NCBI36 |
| NG_034142.1:g.8820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.958C>T MANE Select | ENSP00000339001.7:p.Arg320Trp | |
| ENST00000680530.1:n.1820C>T | ||
| ENST00000681421.1:n.2024C>T | ||
| ENST00000681435.1:c.742C>T | ENSP00000506665.1:p.Arg248Trp | |
| ENST00000327892.12:c.958C>T | ENSP00000339001.7:p.Arg320Trp | |
| ENST00000330914.7:c.742C>T | ENSP00000365578.2:p.Arg248Trp | |
| ENST00000396384.1:c.742C>T | ENSP00000379668.1:p.Arg248Trp | |
| ENST00000396389.5:c.904C>T | ENSP00000379672.1:p.Arg302Trp | |
| NM_001293212.1:c.1018C>T | NP_001280141.1:p.Arg340Trp | |
| NM_001293213.1:c.370-18C>T | NP_001280142.1:n.370-18C>T | |
| NM_001293214.1:c.826C>T | NP_001280143.1:p.Arg276Trp | |
| NM_001293215.1:c.742C>T | NP_001280144.1:p.Arg248Trp | |
| NM_001293216.1:c.742C>T | NP_001280145.1:p.Arg248Trp | |
| NM_178014.3:c.958C>T | NP_821133.1:p.Arg320Trp | |
| NR_120608.1:n.665C>T | ||
| NM_178014.4:c.958C>T MANE Select | NP_821133.1:p.Arg320Trp | |
| NM_001293212.2:c.1018C>T | NP_001280141.1:p.Arg340Trp | |
| NM_001293213.2:c.370-18C>T | NP_001280142.1:n.370-18C>T | |
| NM_001293214.2:c.826C>T | NP_001280143.1:p.Arg276Trp | |
| NM_001293215.2:c.742C>T | NP_001280144.1:p.Arg248Trp | |
| NM_001293216.2:c.742C>T | NP_001280145.1:p.Arg248Trp | |
| NR_120608.2:n.514C>T |