Linked Data
ClinVar Variation Id:
313006
ClinVar RCV Id:
RCV000275186
dbSNP Id:
rs886050443
gnomAD v2:
14-31359007-T-A
gnomAD v4:
14-30889801-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30889801T>A , CM000676.2:g.30889801T>A | GRCh38 |
| NC_000014.8:g.31359007T>A , CM000676.1:g.31359007T>A | GRCh37 |
| NC_000014.7:g.30428758T>A | NCBI36 |
| NG_008211.2:g.20267T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.*10T>A | ENSP00000216361.5:n.*10T>A | |
| ENST00000396618.9:c.*10T>A MANE Select | ENSP00000379862.3:n.*10T>A | |
| ENST00000555117.2:c.1534+3489T>A | ENSP00000493569.1:n.1534+3489T>A | |
| ENST00000643575.1:c.*2+8T>A | ENSP00000494838.1:n.*2+8T>A | |
| ENST00000643697.1:n.1965T>A | ||
| ENST00000644874.2:c.*10T>A | ENSP00000496360.1:n.*10T>A | |
| ENST00000216361.8:c.*10T>A | ENSP00000216361.4:n.*10T>A | |
| ENST00000396618.7:c.*10T>A | ENSP00000379862.3:n.*10T>A | |
| ENST00000460581.6:c.*10T>A | ENSP00000451713.1:n.*10T>A | |
| ENST00000468826.2:c.1314T>A | ||
| ENST00000475087.5:c.1477+3489T>A | ENSP00000451528.1:n.1477+3489T>A | |
| NM_001135058.1:c.*10T>A | NP_001128530.1:n.*10T>A | |
| NM_004086.2:c.*10T>A | NP_004077.1:n.*10T>A | |
| NR_038356.1:n.8A>T | ||
| XM_011536539.1:c.*2+8T>A | XP_011534841.1:n.*2+8T>A | |
| NM_001347720.1:c.*10T>A | NP_001334649.1:n.*10T>A | |
| XM_017021071.1:c.*10T>A | XP_016876560.1:n.*10T>A | |
| XM_024449506.1:c.*10T>A | XP_024305274.1:n.*10T>A | |
| NM_004086.3:c.*10T>A MANE Select | NP_004077.1:n.*10T>A | |
| NM_001135058.2:c.*10T>A | NP_001128530.1:n.*10T>A | |
| NM_001347720.2:c.*10T>A | NP_001334649.1:n.*10T>A |