Linked Data
dbSNP Id:
rs776386995
gnomAD v2:
4-155490839-A-G
gnomAD v3:
4-154569687-A-G
gnomAD v4:
4-154569687-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569687A>G , CM000666.2:g.154569687A>G | GRCh38 |
| NC_000004.11:g.155490839A>G , CM000666.1:g.155490839A>G | GRCh37 |
| NC_000004.10:g.155710289A>G | NCBI36 |
| NG_008833.1:g.11708A>G , LRG_558:g.11708A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1132A>G MANE Select | ENSP00000306099.4:p.Thr378Ala | |
| ENST00000302068.8:c.1132A>G | ENSP00000306099.4:p.Thr378Ala | |
| ENST00000502545.5:n.939+380A>G | ||
| ENST00000509493.1:c.475A>G | ENSP00000426757.1:p.Thr159Ala | |
| NM_001184741.1:c.955A>G | NP_001171670.1:p.Thr319Ala | |
| NM_005141.4:c.1132A>G , LRG_558t1:c.1132A>G | NP_005132.2:p.Thr378Ala | |
| NM_001382759.1:c.1000A>G | NP_001369688.1:p.Thr334Ala | |
| NM_001382760.1:c.1132A>G | NP_001369689.1:p.Thr378Ala | |
| NM_001382761.1:c.1132A>G | NP_001369690.1:p.Thr378Ala | |
| NM_001382762.1:c.832A>G | NP_001369691.1:p.Thr278Ala | |
| NM_001382763.1:c.1123A>G | NP_001369692.1:p.Thr375Ala | |
| NM_001382764.1:c.1080+52A>G | NP_001369693.1:n.1080+52A>G | |
| NM_001382765.1:c.1132A>G | NP_001369694.1:p.Thr378Ala | |
| NM_005141.5:c.1132A>G MANE Select | NP_005132.2:p.Thr378Ala |