Linked Data
dbSNP Id:
rs759147018
ExAC:
9:100437765 T / C
gnomAD v2:
9-100437765-T-C
gnomAD v3:
9-97675483-T-C
gnomAD v4:
9-97675483-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675483T>C , CM000671.2:g.97675483T>C | GRCh38 |
| NC_000009.11:g.100437765T>C , CM000671.1:g.100437765T>C | GRCh37 |
| NC_000009.10:g.99477586T>C | NCBI36 |
| NG_011642.1:g.26927A>G , LRG_471:g.26927A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.778A>G MANE Select | ENSP00000364270.5:p.Thr260Ala | |
| ENST00000375128.4:c.778A>G | ENSP00000364270.4:p.Thr260Ala | |
| ENST00000462523.5:c.*214A>G | ENSP00000433006.1:n.*214A>G | |
| ENST00000485042.1:n.290A>G | ||
| NM_000380.3:c.778A>G , LRG_471t1:c.778A>G | NP_000371.1:p.Thr260Ala | |
| NR_027302.1:n.1126A>G | ||
| XM_006717278.1:c.772+6A>G | XP_006717341.1:n.772+6A>G | |
| XM_011518988.1:c.772+6A>G | XP_011517290.1:n.772+6A>G | |
| NM_001354975.1:c.652A>G | NP_001341904.1:p.Thr218Ala | |
| NR_149091.1:n.623A>G | ||
| NR_149092.1:n.789A>G | ||
| NR_149093.1:n.1315A>G | ||
| NR_149094.1:n.1209A>G | ||
| NM_000380.4:c.778A>G MANE Select | NP_000371.1:p.Thr260Ala | |
| NM_001354975.2:c.652A>G | NP_001341904.1:p.Thr218Ala | |
| NR_027302.2:n.1057A>G | ||
| NR_149091.2:n.554A>G | ||
| NR_149092.2:n.720A>G | ||
| NR_149093.2:n.1246A>G | ||
| NR_149094.2:n.1140A>G |