Linked Data
ClinVar Variation Id:
313008
ClinVar RCV Id:
RCV001690037
dbSNP Id:
rs555882283
ExAC:
14:31359036 G / T
gnomAD v2:
14-31359036-G-T
gnomAD v3:
14-30889830-G-T
gnomAD v4:
14-30889830-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30889830G>T , CM000676.2:g.30889830G>T | GRCh38 |
| NC_000014.8:g.31359036G>T , CM000676.1:g.31359036G>T | GRCh37 |
| NC_000014.7:g.30428787G>T | NCBI36 |
| NG_008211.2:g.20296G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216361.9:c.*39G>T | ENSP00000216361.5:n.*39G>T | |
| ENST00000396618.9:c.*39G>T MANE Select | ENSP00000379862.3:n.*39G>T | |
| ENST00000555117.2:c.1534+3518G>T | ENSP00000493569.1:n.1534+3518G>T | |
| ENST00000643575.1:c.*2+37G>T | ENSP00000494838.1:n.*2+37G>T | |
| ENST00000643697.1:n.1994G>T | ||
| ENST00000644874.2:c.*39G>T | ENSP00000496360.1:n.*39G>T | |
| ENST00000216361.8:c.*39G>T | ENSP00000216361.4:n.*39G>T | |
| ENST00000396618.7:c.*39G>T | ENSP00000379862.3:n.*39G>T | |
| ENST00000460581.6:c.*39G>T | ENSP00000451713.1:n.*39G>T | |
| ENST00000468826.2:c.1343G>T | ||
| ENST00000475087.5:c.1477+3518G>T | ENSP00000451528.1:n.1477+3518G>T | |
| NM_001135058.1:c.*39G>T | NP_001128530.1:n.*39G>T | |
| NM_004086.2:c.*39G>T | NP_004077.1:n.*39G>T | |
| XM_011536539.1:c.*2+37G>T | XP_011534841.1:n.*2+37G>T | |
| NM_001347720.1:c.*39G>T | NP_001334649.1:n.*39G>T | |
| XM_017021071.1:c.*39G>T | XP_016876560.1:n.*39G>T | |
| XM_024449506.1:c.*39G>T | XP_024305274.1:n.*39G>T | |
| NM_004086.3:c.*39G>T MANE Select | NP_004077.1:n.*39G>T | |
| NM_001135058.2:c.*39G>T | NP_001128530.1:n.*39G>T | |
| NM_001347720.2:c.*39G>T | NP_001334649.1:n.*39G>T |