Linked Data
ClinVar Variation Id:
699680
ClinVar RCV Id:
RCV000867584
dbSNP Id:
rs779008957
gnomAD v2:
12-121432123-C-A
gnomAD v4:
12-120994320-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994320C>A , CM000674.2:g.120994320C>A | GRCh38 |
| NC_000012.11:g.121432123C>A , CM000674.1:g.121432123C>A | GRCh37 |
| NC_000012.10:g.119916506C>A | NCBI36 |
| NG_011731.2:g.20575C>A , LRG_522:g.20575C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+120C>A | ENSP00000453965.2:n.750+120C>A | |
| ENST00000257555.11:c.870C>A MANE Select | ENSP00000257555.5:p.Pro290= | |
| ENST00000257555.10:c.870C>A | ENSP00000257555.4:p.Pro290= | |
| ENST00000400024.6:c.870C>A | ENSP00000476181.1:p.Pro290= | |
| ENST00000402929.5:n.1005C>A | ||
| ENST00000535955.5:n.43-3171C>A | ||
| ENST00000538626.2:n.191-3171C>A | ||
| ENST00000538646.5:c.683C>A | ENSP00000443964.1:p.Pro228His | |
| ENST00000540108.1:c.*310C>A | ENSP00000445445.1:n.*310C>A | |
| ENST00000541395.5:c.870C>A | ENSP00000443112.1:p.Pro290= | |
| ENST00000541924.5:c.713+614C>A | ENSP00000440361.1:n.713+614C>A | |
| ENST00000543427.5:c.633+694C>A | ENSP00000439721.2:n.633+694C>A | |
| ENST00000544413.2:c.870C>A | ENSP00000438804.1:p.Pro290= | |
| ENST00000544574.5:c.73-2297C>A | ENSP00000438565.1:n.73-2297C>A | |
| ENST00000560968.5:c.893+120C>A | ||
| ENST00000615446.4:c.-257-1942C>A | ENSP00000483994.1:n.-257-1942C>A | |
| ENST00000617366.4:c.586+741C>A | ENSP00000481967.1:n.586+741C>A | |
| NM_000545.5:c.870C>A , LRG_522t1:c.870C>A | NP_000536.5:p.Pro290= | |
| NM_000545.6:c.870C>A | NP_000536.5:p.Pro290= | |
| NM_001306179.1:c.870C>A | NP_001293108.1:p.Pro290= | |
| XM_005253931.2:c.870C>A | XP_005253988.1:p.Pro290= | |
| XM_024449168.1:c.870C>A | XP_024304936.1:p.Pro290= | |
| NM_000545.8:c.870C>A MANE Select | NP_000536.6:p.Pro290= | |
| NM_001306179.2:c.870C>A | NP_001293108.2:p.Pro290= |