Linked Data
dbSNP Id:
rs1214404456
gnomAD v2:
14-31354605-G-A
gnomAD v4:
14-30885399-G-A
COSMIC:
COSM955213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30885399G>A , CM000676.2:g.30885399G>A | GRCh38 |
| NC_000014.8:g.31354605G>A , CM000676.1:g.31354605G>A | GRCh37 |
| NC_000014.7:g.30424356G>A | NCBI36 |
| NG_008211.2:g.15865G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.934G>A | ENSP00000216361.5:p.Ala312Thr | |
| ENST00000396618.9:c.739G>A MANE Select | ENSP00000379862.3:p.Ala247Thr | |
| ENST00000555117.2:c.796G>A | ENSP00000493569.1:p.Ala266Thr | |
| ENST00000643575.1:c.739G>A | ENSP00000494838.1:p.Ala247Thr | |
| ENST00000643697.1:n.1041G>A | ||
| ENST00000644874.2:c.739G>A | ENSP00000496360.1:p.Ala247Thr | |
| ENST00000216361.8:c.739G>A | ENSP00000216361.4:p.Ala247Thr | |
| ENST00000396618.7:c.739G>A | ENSP00000379862.3:p.Ala247Thr | |
| ENST00000460581.6:c.403G>A | ENSP00000451713.1:p.Ala135Thr | |
| ENST00000468826.2:c.390G>A | ||
| ENST00000475087.5:c.739G>A | ENSP00000451528.1:p.Ala247Thr | |
| ENST00000555881.5:c.385G>A | ENSP00000452569.1:p.Ala129Thr | |
| ENST00000557065.1:c.521G>A | ENSP00000451629.1:n.521G>A | |
| NM_001135058.1:c.739G>A | NP_001128530.1:p.Ala247Thr | |
| NM_004086.2:c.739G>A | NP_004077.1:p.Ala247Thr | |
| NR_038356.1:n.1452+14C>T | ||
| XM_011536539.1:c.739G>A | XP_011534841.1:p.Ala247Thr | |
| NM_001347720.1:c.934G>A | NP_001334649.1:p.Ala312Thr | |
| XM_017021071.1:c.934G>A | XP_016876560.1:p.Ala312Thr | |
| XM_024449506.1:c.796G>A | XP_024305274.1:p.Ala266Thr | |
| NM_004086.3:c.739G>A MANE Select | NP_004077.1:p.Ala247Thr | |
| NM_001135058.2:c.739G>A | NP_001128530.1:p.Ala247Thr | |
| NM_001347720.2:c.934G>A | NP_001334649.1:p.Ala312Thr |