Linked Data
ClinVar Variation Id:
367025
ClinVar RCV Id:
RCV000547350
dbSNP Id:
rs201776049
ExAC:
9:441358 C / T
gnomAD v2:
9-441358-C-T
gnomAD v3:
9-441358-C-T
gnomAD v4:
9-441358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.441358C>T , CM000671.2:g.441358C>T | GRCh38 |
| NC_000009.11:g.441358C>T , CM000671.1:g.441358C>T | GRCh37 |
| NC_000009.10:g.431358C>T | NCBI36 |
| NG_017007.1:g.231494C>T , LRG_196:g.231494C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.4996C>T | ENSP00000371766.2:p.Arg1666Trp | |
| ENST00000683406.1:n.1771C>T | ||
| ENST00000684637.1:n.977C>T | ||
| ENST00000685949.1:n.4084C>T | ||
| ENST00000432829.7:c.5296C>T MANE Select | ENSP00000394888.3:p.Arg1766Trp | |
| ENST00000382329.1:c.3697C>T | ENSP00000371766.1:p.Arg1233Trp | |
| ENST00000432829.6:c.5296C>T | ENSP00000394888.3:p.Arg1766Trp | |
| ENST00000453981.5:c.5092C>T | ENSP00000408464.2:p.Arg1698Trp | |
| ENST00000469391.5:c.4996C>T | ENSP00000419438.1:p.Arg1666Trp | |
| ENST00000495184.5:n.7251C>T | ||
| NM_001190458.1:c.4996C>T | NP_001177387.1:p.Arg1666Trp | |
| NM_001193536.1:c.5092C>T | NP_001180465.1:p.Arg1698Trp | |
| NM_203447.3:c.5296C>T , LRG_196t1:c.5296C>T | NP_982272.2:p.Arg1766Trp | |
| XM_011518045.1:c.4996C>T | XP_011516347.1:p.Arg1666Trp | |
| XM_011518046.1:c.5158C>T | XP_011516348.1:p.Arg1720Trp | |
| XM_011518047.1:c.5092C>T | XP_011516349.1:p.Arg1698Trp | |
| XM_011518048.1:c.5092C>T | XP_011516350.1:p.Arg1698Trp | |
| XM_011518049.1:c.3532C>T | XP_011516351.1:p.Arg1178Trp | |
| XM_011518045.3:c.4996C>T | XP_011516347.1:p.Arg1666Trp | |
| XM_011518046.2:c.5158C>T | XP_011516348.1:p.Arg1720Trp | |
| XM_011518047.3:c.5092C>T | XP_011516349.1:p.Arg1698Trp | |
| XM_011518048.2:c.5092C>T | XP_011516350.1:p.Arg1698Trp | |
| XM_011518049.2:c.3532C>T | XP_011516351.1:p.Arg1178Trp | |
| XM_017015173.1:c.5092C>T | XP_016870662.1:p.Arg1698Trp | |
| XM_017015174.1:c.5158C>T | XP_016870663.1:p.Arg1720Trp | |
| NM_001190458.2:c.4996C>T | NP_001177387.1:p.Arg1666Trp | |
| NM_001193536.2:c.5092C>T | NP_001180465.1:p.Arg1698Trp | |
| NM_203447.4:c.5296C>T MANE Select | NP_982272.2:p.Arg1766Trp |