COSMIC:
COSM4003070 (not active)
Revel Score:
ENST00000508802
0.132
ENST00000261439
0.132
ENST00000402522
0.132
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12137017 (SAS)
Genomes Max Group AF
0.12220858 (SAS)
Exomes Max Group AF
0.12090774 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.37902468C>T , CM000666.2:g.37902468C>T | GRCh38 |
| NC_000004.11:g.37904089C>T , CM000666.1:g.37904089C>T | GRCh37 |
| NC_000004.10:g.37580484C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698857.1:c.373C>T MANE Select | ENSP00000513987.1:p.Arg125Trp | |
| ENST00000261439.9:c.373C>T | ENSP00000261439.4:p.Arg125Trp | |
| ENST00000261439.8:c.373C>T | ENSP00000261439.4:p.Arg125Trp | |
| ENST00000402522.1:c.373C>T | ENSP00000383994.1:p.Arg125Trp | |
| ENST00000508802.5:c.373C>T | ENSP00000423651.1:p.Arg125Trp | |
| ENST00000615497.4:c.-267+61C>T | ENSP00000478039.1:n.-267+61C>T | |
| NM_001253912.1:c.373C>T | NP_001240841.1:p.Arg125Trp | |
| NM_015173.3:c.373C>T | NP_055988.2:p.Arg125Trp | |
| XM_005262646.1:c.373C>T | XP_005262703.1:p.Arg125Trp | |
| XM_005262647.1:c.373C>T | XP_005262704.1:p.Arg125Trp | |
| XM_011513659.1:c.373C>T | XP_011511961.1:p.Arg125Trp | |
| XM_011513660.1:c.373C>T | XP_011511962.1:p.Arg125Trp | |
| XM_011513661.1:c.373C>T | XP_011511963.1:p.Arg125Trp | |
| XM_011513662.1:c.373C>T | XP_011511964.1:p.Arg125Trp | |
| XM_011513663.1:c.373C>T | XP_011511965.1:p.Arg125Trp | |
| XM_011513664.1:c.373C>T | XP_011511966.1:p.Arg125Trp | |
| XM_011513665.1:c.373C>T | XP_011511967.1:p.Arg125Trp | |
| XM_011513666.1:c.373C>T | XP_011511968.1:p.Arg125Trp | |
| XM_011513667.1:c.373C>T | XP_011511969.1:p.Arg125Trp | |
| XM_011513668.1:c.373C>T | XP_011511970.1:p.Arg125Trp | |
| XM_005262646.3:c.373C>T | XP_005262703.1:p.Arg125Trp | |
| XM_005262647.3:c.373C>T | XP_005262704.1:p.Arg125Trp | |
| XM_011513659.2:c.373C>T | XP_011511961.1:p.Arg125Trp | |
| XM_011513660.3:c.373C>T | XP_011511962.1:p.Arg125Trp | |
| XM_011513662.3:c.373C>T | XP_011511964.1:p.Arg125Trp | |
| XM_011513663.3:c.373C>T | XP_011511965.1:p.Arg125Trp | |
| XM_011513664.3:c.373C>T | XP_011511966.1:p.Arg125Trp | |
| XM_011513665.3:c.373C>T | XP_011511967.1:p.Arg125Trp | |
| XM_011513666.3:c.373C>T | XP_011511968.1:p.Arg125Trp | |
| XM_011513668.2:c.373C>T | XP_011511970.1:p.Arg125Trp | |
| XM_017007918.2:c.373C>T | XP_016863407.1:p.Arg125Trp | |
| XM_017007919.2:c.373C>T | XP_016863408.1:p.Arg125Trp | |
| XM_017007920.2:c.373C>T | XP_016863409.1:p.Arg125Trp | |
| XM_017007922.1:c.373C>T | XP_016863411.1:p.Arg125Trp | |
| XR_001741181.1:n.731C>T | ||
| NM_015173.4:c.373C>T | NP_055988.2:p.Arg125Trp | |
| NM_001253912.2:c.373C>T | NP_001240841.1:p.Arg125Trp | |
| NM_001396959.1:c.373C>T MANE Select | NP_001383888.1:p.Arg125Trp |