ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006698 (AMR)
Exomes Max Group AF
0.00009016 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64925766C>T , CM000673.2:g.64925766C>T | GRCh38 |
| NC_000011.9:g.64693238C>T , CM000673.1:g.64693238C>T | GRCh37 |
| NC_000011.8:g.64449814C>T | NCBI36 |
| NG_046897.1:g.13214C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164133.7:c.32C>T MANE Select | ENSP00000164133.2:p.Pro11Leu | |
| ENST00000164133.6:c.32C>T | ENSP00000164133.2:p.Pro11Leu | |
| ENST00000526559.5:c.32C>T | ENSP00000437088.1:p.Pro11Leu | |
| ENST00000532850.1:c.-145-82C>T | ENSP00000436136.1:n.-145-82C>T | |
| NM_006244.3:c.32C>T | NP_006235.1:p.Pro11Leu | |
| XM_006718607.2:c.32C>T | XP_006718670.1:p.Pro11Leu | |
| XM_011545132.1:c.27-82C>T | XP_011543434.1:n.27-82C>T | |
| XM_011545133.1:c.-145-82C>T | XP_011543435.1:n.-145-82C>T | |
| XM_011545134.1:c.-145-82C>T | XP_011543436.1:n.-145-82C>T | |
| XM_011545132.2:c.27-82C>T | XP_011543434.1:n.27-82C>T | |
| XM_011545134.3:c.-145-82C>T | XP_011543436.1:n.-145-82C>T | |
| NM_006244.4:c.32C>T MANE Select | NP_006235.1:p.Pro11Leu |