gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237347812G>A , CM000664.2:g.237347812G>A | GRCh38 |
| NC_000002.11:g.238256455G>A , CM000664.1:g.238256455G>A | GRCh37 |
| NC_000002.10:g.237921194G>A | NCBI36 |
| NG_008676.1:g.71396C>T , LRG_473:g.71396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.6406C>T | ENSP00000315873.4:p.Arg2136Ter | |
| ENST00000295550.9:c.7024C>T MANE Select | ENSP00000295550.4:p.Arg2342Ter | |
| ENST00000295550.8:c.7024C>T | ENSP00000295550.4:p.Arg2342Ter | |
| ENST00000347401.7:c.5203C>T | ENSP00000315609.4:p.Arg1735Ter | |
| ENST00000353578.8:c.6406C>T | ENSP00000315873.4:p.Arg2136Ter | |
| ENST00000409809.5:c.6406C>T | ENSP00000386844.1:p.Arg2136Ter | |
| ENST00000472056.5:c.5203C>T | ENSP00000418285.1:p.Arg1735Ter | |
| ENST00000491769.1:n.1278C>T | ||
| NM_004369.3:c.7024C>T , LRG_473t1:c.7024C>T | NP_004360.2:p.Arg2342Ter | |
| NM_057166.4:c.5203C>T | NP_476507.3:p.Arg1735Ter | |
| NM_057167.3:c.6406C>T | NP_476508.2:p.Arg2136Ter | |
| XM_005246065.1:c.6424C>T | XP_005246122.1:p.Arg2142Ter | |
| XM_005246066.1:c.5803C>T | XP_005246123.1:p.Arg1935Ter | |
| XM_006712253.1:c.6523C>T | XP_006712316.1:p.Arg2175Ter | |
| XM_011510574.1:c.7021C>T | XP_011508876.1:p.Arg2341Ter | |
| XM_011510575.1:c.4618C>T | XP_011508877.1:p.Arg1540Ter | |
| XM_017003304.1:c.4618C>T | XP_016858793.1:p.Arg1540Ter | |
| XM_024452684.1:c.5803C>T | XP_024308452.1:p.Arg1935Ter | |
| NM_004369.4:c.7024C>T MANE Select | NP_004360.2:p.Arg2342Ter | |
| NM_057166.5:c.5203C>T | NP_476507.3:p.Arg1735Ter | |
| NM_057167.4:c.6406C>T | NP_476508.2:p.Arg2136Ter |