Linked Data
dbSNP Id:
rs1895759581
gnomAD v3:
14-30885605-C-T
gnomAD v4:
14-30885605-C-T
MyVariant Identifiers:
chr14:g.31354811C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30885605C>T , CM000676.2:g.30885605C>T | GRCh38 |
| NC_000014.8:g.31354811C>T , CM000676.1:g.31354811C>T | GRCh37 |
| NC_000014.7:g.30424562C>T | NCBI36 |
| NG_008211.2:g.16071C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.1140C>T | ENSP00000216361.5:p.Val380= | |
| ENST00000396618.9:c.945C>T MANE Select | ENSP00000379862.3:p.Val315= | |
| ENST00000555117.2:c.1002C>T | ENSP00000493569.1:p.Val334= | |
| ENST00000643575.1:c.945C>T | ENSP00000494838.1:p.Val315= | |
| ENST00000643697.1:n.1247C>T | ||
| ENST00000644874.2:c.945C>T | ENSP00000496360.1:p.Val315= | |
| ENST00000216361.8:c.945C>T | ENSP00000216361.4:p.Val315= | |
| ENST00000396618.7:c.945C>T | ENSP00000379862.3:p.Val315= | |
| ENST00000460581.6:c.609C>T | ENSP00000451713.1:p.Val203= | |
| ENST00000468826.2:c.596C>T | ||
| ENST00000475087.5:c.945C>T | ENSP00000451528.1:p.Val315= | |
| ENST00000555881.5:c.591C>T | ENSP00000452569.1:p.Val197= | |
| NM_001135058.1:c.945C>T | NP_001128530.1:p.Val315= | |
| NM_004086.2:c.945C>T | NP_004077.1:p.Val315= | |
| NR_038356.1:n.1260G>A | ||
| XM_011536539.1:c.945C>T | XP_011534841.1:p.Val315= | |
| NM_001347720.1:c.1140C>T | NP_001334649.1:p.Val380= | |
| XM_017021071.1:c.1140C>T | XP_016876560.1:p.Val380= | |
| XM_024449506.1:c.1002C>T | XP_024305274.1:p.Val334= | |
| NM_004086.3:c.945C>T MANE Select | NP_004077.1:p.Val315= | |
| NM_001135058.2:c.945C>T | NP_001128530.1:p.Val315= | |
| NM_001347720.2:c.1140C>T | NP_001334649.1:p.Val380= |