gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00045911 (AMR)
Genomes Max Group AF
0.00097238 (AMR)
Exomes Max Group AF
0.00044389 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46903518C>T , CM000665.2:g.46903518C>T | GRCh38 |
| NC_000003.11:g.46945008C>T , CM000665.1:g.46945008C>T | GRCh37 |
| NC_000003.10:g.46920012C>T | NCBI36 |
| NG_008864.1:g.30773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449590.6:c.1644C>T MANE Select | ENSP00000402723.1:p.Leu548= | |
| ENST00000313049.9:c.1644C>T | ENSP00000321999.4:p.Leu548= | |
| ENST00000418619.5:c.1644C>T | ENSP00000411424.1:p.Leu548= | |
| ENST00000422115.2:c.411C>T | ENSP00000396176.1:p.Leu137= | |
| ENST00000428220.1:c.*581C>T | ENSP00000389811.1:n.*581C>T | |
| ENST00000430002.6:c.1644C>T | ENSP00000413774.2:p.Leu548= | |
| ENST00000449590.5:c.1644C>T | ENSP00000402723.1:p.Leu548= | |
| NM_000316.2:c.1644C>T | NP_000307.1:p.Leu548= | |
| NM_001184744.1:c.1644C>T | NP_001171673.1:p.Leu548= | |
| XM_005265344.2:c.1551C>T | XP_005265401.1:p.Leu517= | |
| XM_011533967.1:c.1683C>T | XP_011532269.1:p.Leu561= | |
| XM_011533968.1:c.1665C>T | XP_011532270.1:p.Leu555= | |
| XM_005265344.3:c.1551C>T | XP_005265401.1:p.Leu517= | |
| XM_011533967.3:c.1683C>T | XP_011532269.1:p.Leu561= | |
| XM_011533968.2:c.1665C>T | XP_011532270.1:p.Leu555= | |
| XM_017006932.2:c.1683C>T | XP_016862421.1:p.Leu561= | |
| XM_017006933.1:c.1644C>T | XP_016862422.1:p.Leu548= | |
| XM_017006934.1:c.*128C>T | XP_016862423.1:n.*128C>T | |
| NM_000316.3:c.1644C>T MANE Select | NP_000307.1:p.Leu548= |