Linked Data
dbSNP Id:
rs1257866486
gnomAD v2:
15-80460449-A-G
gnomAD v3:
15-80168107-A-G
gnomAD v4:
15-80168107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168107A>G , CM000677.2:g.80168107A>G | GRCh38 |
| NC_000015.9:g.80460449A>G , CM000677.1:g.80460449A>G | GRCh37 |
| NC_000015.8:g.78247504A>G | NCBI36 |
| NG_012833.1:g.20109A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.586A>G | ||
| ENST00000684569.1:n.556A>G | ||
| ENST00000561421.6:c.511A>G MANE Select | ENSP00000453347.2:p.Thr171Ala | |
| ENST00000646551.1:n.2138A>G | ||
| ENST00000261755.9:c.511A>G | ENSP00000261755.5:p.Thr171Ala | |
| ENST00000407106.5:c.511A>G | ENSP00000385080.1:p.Thr171Ala | |
| ENST00000539156.5:c.301A>G | ENSP00000454271.1:p.Thr101Ala | |
| ENST00000558514.1:n.57A>G | ||
| ENST00000558627.1:n.439A>G | ||
| ENST00000561421.5:c.511A>G | ENSP00000453347.1:p.Thr171Ala | |
| NM_000137.2:c.511A>G | NP_000128.1:p.Thr171Ala | |
| XM_024449872.1:c.511A>G | XP_024305640.1:p.Thr171Ala | |
| NM_000137.4:c.511A>G MANE Select | NP_000128.1:p.Thr171Ala | |
| NM_001374377.1:c.511A>G | NP_001361306.1:p.Thr171Ala | |
| NM_001374380.1:c.511A>G | NP_001361309.1:p.Thr171Ala |