Linked Data
ClinVar Variation Id:
2069028
ClinVar RCV Id:
RCV002975285
dbSNP Id:
rs934940026
gnomAD v2:
12-121432105-C-T
gnomAD v3:
12-120994302-C-T
gnomAD v4:
12-120994302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994302C>T , CM000674.2:g.120994302C>T | GRCh38 |
| NC_000012.11:g.121432105C>T , CM000674.1:g.121432105C>T | GRCh37 |
| NC_000012.10:g.119916488C>T | NCBI36 |
| NG_011731.2:g.20557C>T , LRG_522:g.20557C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+102C>T | ENSP00000453965.2:n.750+102C>T | |
| ENST00000257555.11:c.852C>T MANE Select | ENSP00000257555.5:p.Asp284= | |
| ENST00000257555.10:c.852C>T | ENSP00000257555.4:p.Asp284= | |
| ENST00000400024.6:c.852C>T | ENSP00000476181.1:p.Asp284= | |
| ENST00000402929.5:n.987C>T | ||
| ENST00000535955.5:n.43-3189C>T | ||
| ENST00000538626.2:n.191-3189C>T | ||
| ENST00000538646.5:c.665C>T | ENSP00000443964.1:p.Thr222Ile | |
| ENST00000540108.1:c.*292C>T | ENSP00000445445.1:n.*292C>T | |
| ENST00000541395.5:c.852C>T | ENSP00000443112.1:p.Asp284= | |
| ENST00000541924.5:c.713+596C>T | ENSP00000440361.1:n.713+596C>T | |
| ENST00000543427.5:c.633+676C>T | ENSP00000439721.2:n.633+676C>T | |
| ENST00000544413.2:c.852C>T | ENSP00000438804.1:p.Asp284= | |
| ENST00000544574.5:c.73-2315C>T | ENSP00000438565.1:n.73-2315C>T | |
| ENST00000560968.5:c.893+102C>T | ||
| ENST00000615446.4:c.-257-1960C>T | ENSP00000483994.1:n.-257-1960C>T | |
| ENST00000617366.4:c.586+723C>T | ENSP00000481967.1:n.586+723C>T | |
| NM_000545.5:c.852C>T , LRG_522t1:c.852C>T | NP_000536.5:p.Asp284= | |
| NM_000545.6:c.852C>T | NP_000536.5:p.Asp284= | |
| NM_001306179.1:c.852C>T | NP_001293108.1:p.Asp284= | |
| XM_005253931.2:c.852C>T | XP_005253988.1:p.Asp284= | |
| XM_024449168.1:c.852C>T | XP_024304936.1:p.Asp284= | |
| NM_000545.8:c.852C>T MANE Select | NP_000536.6:p.Asp284= | |
| NM_001306179.2:c.852C>T | NP_001293108.2:p.Asp284= |