Linked Data
dbSNP Id:
rs764490320
ExAC:
12:121435441 A / G
gnomAD v2:
12-121435441-A-G
gnomAD v3:
12-120997638-A-G
gnomAD v4:
12-120997638-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997638A>G , CM000674.2:g.120997638A>G | GRCh38 |
| NC_000012.11:g.121435441A>G , CM000674.1:g.121435441A>G | GRCh37 |
| NC_000012.10:g.119919824A>G | NCBI36 |
| NG_011731.2:g.23893A>G , LRG_522:g.23893A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*221A>G | ENSP00000453965.2:n.*221A>G | |
| ENST00000257555.11:c.1474A>G MANE Select | ENSP00000257555.5:p.Thr492Ala | |
| ENST00000257555.10:c.1474A>G | ENSP00000257555.4:p.Thr492Ala | |
| ENST00000400024.6:c.1474A>G | ENSP00000476181.1:p.Thr492Ala | |
| ENST00000402929.5:n.2340A>G | ||
| ENST00000535955.5:n.190A>G | ||
| ENST00000538626.2:n.338A>G | ||
| ENST00000538646.5:c.*450A>G | ENSP00000443964.1:n.*450A>G | |
| ENST00000540108.1:c.*914A>G | ENSP00000445445.1:n.*914A>G | |
| ENST00000541395.5:c.1474A>G | ENSP00000443112.1:p.Thr492Ala | |
| ENST00000541924.5:c.*488A>G | ENSP00000440361.1:n.*488A>G | |
| ENST00000543255.1:n.518A>G | ||
| ENST00000543427.5:c.937A>G | ENSP00000439721.2:p.Thr313Ala | |
| ENST00000544413.2:c.1474A>G | ENSP00000438804.1:p.Thr492Ala | |
| ENST00000544574.5:c.*237A>G | ENSP00000438565.1:n.*237A>G | |
| ENST00000560968.5:c.1291A>G | ||
| ENST00000615446.4:c.262A>G | ENSP00000483994.1:p.Thr88Ala | |
| ENST00000617366.4:c.591A>G | ENSP00000481967.1:p.Pro197= | |
| NM_000545.5:c.1474A>G , LRG_522t1:c.1474A>G | NP_000536.5:p.Thr492Ala | |
| NM_000545.6:c.1474A>G | NP_000536.5:p.Thr492Ala | |
| NM_001306179.1:c.1474A>G | NP_001293108.1:p.Thr492Ala | |
| XM_005253931.2:c.1474A>G | XP_005253988.1:p.Thr492Ala | |
| XM_024449168.1:c.1474A>G | XP_024304936.1:p.Thr492Ala | |
| NM_000545.8:c.1474A>G MANE Select | NP_000536.6:p.Thr492Ala | |
| NM_001306179.2:c.1474A>G | NP_001293108.2:p.Thr492Ala |