gnomAD v2:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10718384C>T , CM000681.2:g.10718384C>T | GRCh38 |
| NC_000019.9:g.10829060C>T , CM000681.1:g.10829060C>T | GRCh37 |
| NC_000019.8:g.10690060C>T | NCBI36 |
| NG_008792.1:g.5306C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.330C>T | ||
| ENST00000682524.1:n.330C>T | ||
| ENST00000683738.1:n.330C>T | ||
| ENST00000355667.11:c.142C>T | ENSP00000347890.6:p.Leu48= | |
| ENST00000389253.9:c.142C>T MANE Select | ENSP00000373905.4:p.Leu48= | |
| ENST00000355667.10:c.142C>T | ENSP00000347890.6:p.Leu48= | |
| ENST00000359692.10:c.142C>T | ENSP00000352721.6:p.Leu48= | |
| ENST00000389253.8:c.142C>T | ENSP00000373905.3:p.Leu48= | |
| ENST00000408974.8:c.142C>T | ENSP00000386192.3:p.Leu48= | |
| ENST00000585892.5:c.142C>T | ENSP00000468734.1:p.Leu48= | |
| NM_001005360.2:c.142C>T | NP_001005360.1:p.Leu48= | |
| NM_001005361.2:c.142C>T | NP_001005361.1:p.Leu48= | |
| NM_001005362.2:c.142C>T | NP_001005362.1:p.Leu48= | |
| NM_001190716.1:c.142C>T | NP_001177645.1:p.Leu48= | |
| NM_004945.3:c.142C>T | NP_004936.2:p.Leu48= | |
| NM_001005361.3:c.142C>T MANE Select | NP_001005361.1:p.Leu48= | |
| NM_001190716.2:c.142C>T | NP_001177645.1:p.Leu48= | |
| NM_001005360.3:c.142C>T | NP_001005360.1:p.Leu48= | |
| NM_001005362.3:c.142C>T | NP_001005362.1:p.Leu48= | |
| NM_004945.4:c.142C>T | NP_004936.2:p.Leu48= |