Linked Data
dbSNP Id:
rs1470867224
gnomAD v2:
9-139399339-T-C
gnomAD v3:
9-136504887-T-C
gnomAD v4:
9-136504887-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504887T>C , CM000671.2:g.136504887T>C | GRCh38 |
| NC_000009.11:g.139399339T>C , CM000671.1:g.139399339T>C | GRCh37 |
| NC_000009.10:g.138519160T>C | NCBI36 |
| NG_007458.1:g.45900A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2611A>G | ||
| ENST00000651671.1:c.4804A>G MANE Select | ENSP00000498587.1:p.Thr1602Ala | |
| ENST00000679595.1:c.4804A>G | ENSP00000506241.1:p.Thr1602Ala | |
| ENST00000680133.1:c.4690A>G | ENSP00000505319.1:p.Thr1564Ala | |
| ENST00000680218.1:c.4684A>G | ENSP00000505339.1:p.Thr1562Ala | |
| ENST00000680668.1:c.4690A>G | ENSP00000506336.1:p.Thr1564Ala | |
| ENST00000680778.1:c.2401A>G | ENSP00000506033.1:p.Thr801Ala | |
| ENST00000680924.1:c.*2204A>G | ENSP00000506031.1:n.*2204A>G | |
| ENST00000681135.1:c.*2413A>G | ENSP00000506636.1:n.*2413A>G | |
| ENST00000681298.1:n.1617A>G | ||
| ENST00000681454.1:c.*4040A>G | ENSP00000505763.1:n.*4040A>G | |
| ENST00000277541.6:c.4804A>G | ENSP00000277541.6:p.Thr1602Ala | |
| NM_017617.3:c.4804A>G | NP_060087.3:p.Thr1602Ala | |
| XM_011518717.1:c.4105A>G | XP_011517019.1:p.Thr1369Ala | |
| NM_017617.5:c.4804A>G MANE Select | NP_060087.3:p.Thr1602Ala | |
| XM_011518717.2:c.4081A>G | XP_011517019.2:p.Thr1361Ala |