gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93228767 (EAS)
Genomes Max Group AF
0.93228767 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77339033G>A , CM000676.2:g.77339033G>A | GRCh38 |
| NC_000014.8:g.77805376G>A , CM000676.1:g.77805376G>A | GRCh37 |
| NC_000014.7:g.76875129G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216468.8:c.*2738C>T MANE Select | ENSP00000216468.7:n.*2738C>T | |
| ENST00000216468.7:c.*2738C>T | ENSP00000216468.7:n.*2738C>T | |
| XM_005267544.3:c.*2738C>T | XP_005267601.1:n.*2738C>T | |
| NM_001346131.1:c.*2738C>T | NP_001333060.1:n.*2738C>T | |
| NM_001346133.1:c.*2738C>T | NP_001333062.1:n.*2738C>T | |
| NM_001346134.1:c.*2738C>T | NP_001333063.1:n.*2738C>T | |
| NM_213601.2:c.*2738C>T | NP_998766.1:n.*2738C>T | |
| XM_017021224.1:c.*2738C>T | XP_016876713.1:n.*2738C>T | |
| NM_213601.3:c.*2738C>T MANE Select | NP_998766.1:n.*2738C>T | |
| NM_001346131.2:c.*2738C>T | NP_001333060.1:n.*2738C>T | |
| NM_001346133.2:c.*2738C>T | NP_001333062.1:n.*2738C>T |