ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008224 (EAS)
Genomes Max Group AF
0.00015695 (EAS)
Exomes Max Group AF
0.00006791 (SAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99193020G>A , CM000669.2:g.99193020G>A | GRCh38 |
| NC_000007.13:g.98790643G>A , CM000669.1:g.98790643G>A | GRCh37 |
| NC_000007.12:g.98628579G>A | NCBI36 |
| NG_051213.1:g.31398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327442.7:c.635C>T MANE Select | ENSP00000330878.6:p.Pro212Leu | |
| ENST00000681060.1:c.635C>T | ENSP00000506489.1:p.Pro212Leu | |
| ENST00000327442.6:c.635C>T | ENSP00000330878.6:p.Pro212Leu | |
| NM_001145715.1:c.635C>T | NP_001139187.1:p.Pro212Leu | |
| XM_006715987.2:c.635C>T | XP_006716050.1:p.Pro212Leu | |
| XM_011516215.1:c.716C>T | XP_011514517.1:p.Pro239Leu | |
| XM_011516216.1:c.704C>T | XP_011514518.1:p.Pro235Leu | |
| XM_011516217.1:c.683C>T | XP_011514519.1:p.Pro228Leu | |
| XM_011516218.1:c.635C>T | XP_011514520.1:p.Pro212Leu | |
| XM_011516219.1:c.635C>T | XP_011514521.1:p.Pro212Leu | |
| XM_011516220.1:c.635C>T | XP_011514522.1:p.Pro212Leu | |
| XM_011516221.1:c.347C>T | XP_011514523.1:p.Pro116Leu | |
| NM_001145715.2:c.635C>T | NP_001139187.1:p.Pro212Leu | |
| XM_011516215.2:c.716C>T | XP_011514517.1:p.Pro239Leu | |
| XM_017012208.1:c.716C>T | XP_016867697.1:p.Pro239Leu | |
| XM_017012209.1:c.704C>T | XP_016867698.1:p.Pro235Leu | |
| XM_017012210.1:c.683C>T | XP_016867699.1:p.Pro228Leu | |
| XM_017012211.1:c.716C>T | XP_016867700.1:p.Pro239Leu | |
| XM_017012212.1:c.635C>T | XP_016867701.1:p.Pro212Leu | |
| XM_017012213.1:c.635C>T | XP_016867702.1:p.Pro212Leu | |
| XM_017012214.1:c.635C>T | XP_016867703.1:p.Pro212Leu | |
| XM_017012215.1:c.716C>T | XP_016867704.1:p.Pro239Leu | |
| XM_017012216.1:c.347C>T | XP_016867705.1:p.Pro116Leu | |
| NM_001145715.3:c.635C>T MANE Select | NP_001139187.1:p.Pro212Leu |