Linked Data
dbSNP Id:
rs78886627
ExAC:
12:121435360 T / C
gnomAD v2:
12-121435360-T-C
gnomAD v4:
12-120997557-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997557T>C , CM000674.2:g.120997557T>C | GRCh38 |
| NC_000012.11:g.121435360T>C , CM000674.1:g.121435360T>C | GRCh37 |
| NC_000012.10:g.119919743T>C | NCBI36 |
| NG_011731.2:g.23812T>C , LRG_522:g.23812T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*140T>C | ENSP00000453965.2:n.*140T>C | |
| ENST00000257555.11:c.1393T>C MANE Select | ENSP00000257555.5:p.Ser465Pro | |
| ENST00000257555.10:c.1393T>C | ENSP00000257555.4:p.Ser465Pro | |
| ENST00000400024.6:c.1393T>C | ENSP00000476181.1:p.Ser465Pro | |
| ENST00000402929.5:n.2259T>C | ||
| ENST00000535955.5:n.109T>C | ||
| ENST00000538626.2:n.257T>C | ||
| ENST00000538646.5:c.*369T>C | ENSP00000443964.1:n.*369T>C | |
| ENST00000540108.1:c.*833T>C | ENSP00000445445.1:n.*833T>C | |
| ENST00000541395.5:c.1393T>C | ENSP00000443112.1:p.Ser465Pro | |
| ENST00000541924.5:c.*407T>C | ENSP00000440361.1:n.*407T>C | |
| ENST00000543255.1:n.437T>C | ||
| ENST00000543427.5:c.856T>C | ENSP00000439721.2:p.Ser286Pro | |
| ENST00000544413.2:c.1393T>C | ENSP00000438804.1:p.Ser465Pro | |
| ENST00000544574.5:c.*156T>C | ENSP00000438565.1:n.*156T>C | |
| ENST00000560968.5:c.1210T>C | ||
| ENST00000615446.4:c.181T>C | ENSP00000483994.1:p.Ser61Pro | |
| ENST00000617366.4:c.587-77T>C | ENSP00000481967.1:n.587-77T>C | |
| NM_000545.5:c.1393T>C , LRG_522t1:c.1393T>C | NP_000536.5:p.Ser465Pro | |
| NM_000545.6:c.1393T>C | NP_000536.5:p.Ser465Pro | |
| NM_001306179.1:c.1393T>C | NP_001293108.1:p.Ser465Pro | |
| XM_005253931.2:c.1393T>C | XP_005253988.1:p.Ser465Pro | |
| XM_024449168.1:c.1393T>C | XP_024304936.1:p.Ser465Pro | |
| NM_000545.8:c.1393T>C MANE Select | NP_000536.6:p.Ser465Pro | |
| NM_001306179.2:c.1393T>C | NP_001293108.2:p.Ser465Pro |