gnomAD v4:
Joint Max Group AF
0.00000879 (NFE)
Exomes Max Group AF
0.00000932 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206774264C>T , CM000664.2:g.206774264C>T | GRCh38 |
| NC_000002.11:g.207638988C>T , CM000664.1:g.207638988C>T | GRCh37 |
| NC_000002.10:g.207347233C>T | NCBI36 |
| NG_008984.1:g.13877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.1294C>T MANE Select | ENSP00000385990.3:p.Arg432Ter | |
| ENST00000236980.10:c.1294C>T | ENSP00000236980.6:p.Arg432Ter | |
| ENST00000402774.7:c.1294C>T | ENSP00000385990.3:p.Arg432Ter | |
| ENST00000403094.3:c.1294C>T | ENSP00000384929.3:p.Arg432Ter | |
| ENST00000487777.5:n.1352C>T | ||
| NM_001136193.1:c.1294C>T | NP_001129665.1:p.Arg432Ter | |
| NM_001136194.1:c.1294C>T | NP_001129666.1:p.Arg432Ter | |
| NM_014929.3:c.1294C>T | NP_055744.2:p.Arg432Ter | |
| NM_001136193.2:c.1294C>T MANE Select | NP_001129665.1:p.Arg432Ter | |
| NM_001136194.2:c.1294C>T | NP_001129666.1:p.Arg432Ter | |
| NM_014929.4:c.1294C>T | NP_055744.2:p.Arg432Ter |