Linked Data
ClinVar Variation Id:
286749
ClinVar RCV Id:
RCV000348246
dbSNP Id:
rs28400029
ExAC:
14:31346893 A / T
gnomAD v2:
14-31346893-A-T
gnomAD v3:
14-30877687-A-T
gnomAD v4:
14-30877687-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30877687A>T , CM000676.2:g.30877687A>T | GRCh38 |
| NC_000014.8:g.31346893A>T , CM000676.1:g.31346893A>T | GRCh37 |
| NC_000014.7:g.30416644A>T | NCBI36 |
| NG_008211.2:g.8153A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.393A>T | ENSP00000216361.5:p.Val131= | |
| ENST00000396618.9:c.198A>T MANE Select | ENSP00000379862.3:p.Val66= | |
| ENST00000555117.2:c.198A>T | ENSP00000493569.1:p.Val66= | |
| ENST00000643575.1:c.198A>T | ENSP00000494838.1:p.Val66= | |
| ENST00000643697.1:n.443A>T | ||
| ENST00000644874.2:c.198A>T | ENSP00000496360.1:p.Val66= | |
| ENST00000216361.8:c.198A>T | ENSP00000216361.4:p.Val66= | |
| ENST00000396618.7:c.198A>T | ENSP00000379862.3:p.Val66= | |
| ENST00000460581.6:c.-139A>T | ENSP00000451713.1:n.-139A>T | |
| ENST00000475087.5:c.198A>T | ENSP00000451528.1:p.Val66= | |
| ENST00000553772.5:c.198A>T | ENSP00000452343.1:p.Val66= | |
| ENST00000553833.5:n.352A>T | ||
| ENST00000555881.5:c.82+2584A>T | ENSP00000452569.1:n.82+2584A>T | |
| ENST00000556908.5:c.150A>T | ENSP00000452541.1:p.Val50= | |
| ENST00000557065.1:c.114A>T | ENSP00000451629.1:p.Val38= | |
| NM_001135058.1:c.198A>T | NP_001128530.1:p.Val66= | |
| NM_004086.2:c.198A>T | NP_004077.1:p.Val66= | |
| NR_038356.1:n.1618-1135T>A | ||
| XM_011536539.1:c.198A>T | XP_011534841.1:p.Val66= | |
| NM_001347720.1:c.393A>T | NP_001334649.1:p.Val131= | |
| XM_017021071.1:c.393A>T | XP_016876560.1:p.Val131= | |
| XM_024449506.1:c.198A>T | XP_024305274.1:p.Val66= | |
| NM_004086.3:c.198A>T MANE Select | NP_004077.1:p.Val66= | |
| NM_001135058.2:c.198A>T | NP_001128530.1:p.Val66= | |
| NM_001347720.2:c.393A>T | NP_001334649.1:p.Val131= |