Linked Data
ClinVar Variation Id:
307454
dbSNP Id:
rs779387337
ExAC:
12:121416566 C / T
gnomAD v2:
12-121416566-C-T
gnomAD v3:
12-120978763-C-T
gnomAD v4:
12-120978763-C-T
ERepo:
CA6831648/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120978763C>T , CM000674.2:g.120978763C>T | GRCh38 |
| NC_000012.11:g.121416566C>T , CM000674.1:g.121416566C>T | GRCh37 |
| NC_000012.10:g.119900949C>T | NCBI36 |
| NG_011731.2:g.5018C>T , LRG_522:g.5018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.-6C>T | ENSP00000453965.2:n.-6C>T | |
| ENST00000257555.11:c.-6C>T MANE Select | ENSP00000257555.5:n.-6C>T | |
| ENST00000257555.10:c.-6C>T | ENSP00000257555.4:n.-6C>T | |
| ENST00000400024.6:c.-6C>T | ENSP00000476181.1:n.-6C>T | |
| ENST00000402929.5:n.130C>T | ||
| ENST00000535955.5:n.42+71C>T | ||
| ENST00000538626.2:n.113C>T | ||
| ENST00000538646.5:c.-6C>T | ENSP00000443964.1:n.-6C>T | |
| ENST00000540108.1:c.-6C>T | ENSP00000445445.1:n.-6C>T | |
| ENST00000541395.5:c.-6C>T | ENSP00000443112.1:n.-6C>T | |
| ENST00000541924.5:c.-6C>T | ENSP00000440361.1:n.-6C>T | |
| ENST00000543427.5:c.-6C>T | ENSP00000439721.2:n.-6C>T | |
| ENST00000544413.2:c.-6C>T | ENSP00000438804.1:n.-6C>T | |
| ENST00000544574.5:c.-6C>T | ENSP00000438565.1:n.-6C>T | |
| ENST00000560968.5:c.138C>T | ||
| ENST00000615446.4:c.-258+52C>T | ENSP00000483994.1:n.-258+52C>T | |
| ENST00000617366.4:c.-6C>T | ENSP00000481967.1:n.-6C>T | |
| NM_000545.5:c.-6C>T , LRG_522t1:c.-6C>T | NP_000536.5:n.-6C>T | |
| NM_000545.6:c.-6C>T | NP_000536.5:n.-6C>T | |
| NM_001306179.1:c.-6C>T | NP_001293108.1:n.-6C>T | |
| XM_005253931.2:c.-6C>T | XP_005253988.1:n.-6C>T | |
| XM_024449168.1:c.-6C>T | XP_024304936.1:n.-6C>T | |
| NM_000545.8:c.-6C>T MANE Select | NP_000536.6:n.-6C>T | |
| NM_001306179.2:c.-6C>T | NP_001293108.2:n.-6C>T |