gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88038365C>T , CM000666.2:g.88038365C>T | GRCh38 |
| NC_000004.11:g.88959517C>T , CM000666.1:g.88959517C>T | GRCh37 |
| NC_000004.10:g.89178541C>T | NCBI36 |
| NG_008604.1:g.35698C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.958C>T MANE Select | ENSP00000237596.2:p.Arg320Ter | |
| ENST00000237596.6:c.958C>T | ENSP00000237596.2:p.Arg320Ter | |
| ENST00000506367.1:n.405C>T | ||
| ENST00000506727.1:n.544C>T | ||
| NM_000297.3:c.958C>T | NP_000288.1:p.Arg320Ter | |
| XM_011532028.1:c.958C>T | XP_011530330.1:p.Arg320Ter | |
| XM_011532029.1:c.238C>T | XP_011530331.1:p.Arg80Ter | |
| XM_011532030.1:c.118C>T | XP_011530332.1:p.Arg40Ter | |
| XR_244632.2:n.1053C>T | ||
| NR_156488.1:n.1045C>T | ||
| XM_011532028.2:c.958C>T | XP_011530330.1:p.Arg320Ter | |
| XM_011532030.2:c.118C>T | XP_011530332.1:p.Arg40Ter | |
| NM_000297.4:c.958C>T MANE Select | NP_000288.1:p.Arg320Ter | |
| NR_156488.2:n.1057C>T |