Linked Data
dbSNP Id:
rs369467132
gnomAD v2:
9-139399315-C-T
gnomAD v4:
9-136504863-C-T
COSMIC:
COSM33744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504863C>T , CM000671.2:g.136504863C>T | GRCh38 |
| NC_000009.11:g.139399315C>T , CM000671.1:g.139399315C>T | GRCh37 |
| NC_000009.10:g.138519136C>T | NCBI36 |
| NG_007458.1:g.45924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2635G>A | ||
| ENST00000651671.1:c.4828G>A MANE Select | ENSP00000498587.1:p.Ala1610Thr | |
| ENST00000679595.1:c.4828G>A | ENSP00000506241.1:p.Ala1610Thr | |
| ENST00000680133.1:c.4714G>A | ENSP00000505319.1:p.Ala1572Thr | |
| ENST00000680218.1:c.4708G>A | ENSP00000505339.1:p.Ala1570Thr | |
| ENST00000680668.1:c.4714G>A | ENSP00000506336.1:p.Ala1572Thr | |
| ENST00000680778.1:c.2425G>A | ENSP00000506033.1:p.Ala809Thr | |
| ENST00000680924.1:c.*2228G>A | ENSP00000506031.1:n.*2228G>A | |
| ENST00000681135.1:c.*2437G>A | ENSP00000506636.1:n.*2437G>A | |
| ENST00000681298.1:n.1641G>A | ||
| ENST00000681454.1:c.*4064G>A | ENSP00000505763.1:n.*4064G>A | |
| ENST00000277541.6:c.4828G>A | ENSP00000277541.6:p.Ala1610Thr | |
| NM_017617.3:c.4828G>A | NP_060087.3:p.Ala1610Thr | |
| XM_011518717.1:c.4129G>A | XP_011517019.1:p.Ala1377Thr | |
| NM_017617.5:c.4828G>A MANE Select | NP_060087.3:p.Ala1610Thr | |
| XM_011518717.2:c.4105G>A | XP_011517019.2:p.Ala1369Thr |