Linked Data
ClinVar Variation Id:
44843
ClinVar RCV Id:
RCV002228127
dbSNP Id:
rs754554
ExAC:
7:24758818 G / T
gnomAD v2:
7-24758818-G-T
gnomAD v3:
7-24719199-G-T
gnomAD v4:
7-24719199-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24719199G>T , CM000669.2:g.24719199G>T | GRCh38 |
| NC_000007.13:g.24758818G>T , CM000669.1:g.24758818G>T | GRCh37 |
| NC_000007.12:g.24725343G>T | NCBI36 |
| NG_011593.1:g.43822C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342947.9:c.424C>A | ENSP00000339587.3:p.Pro142Thr | |
| ENST00000409970.6:c.-69C>A | ENSP00000387119.1:n.-69C>A | |
| ENST00000411476.3:n.193C>A | ||
| ENST00000414428.2:c.424C>A | ENSP00000413963.2:p.Pro142Thr | |
| ENST00000419307.6:c.-69C>A | ENSP00000401332.1:n.-69C>A | |
| ENST00000559637.6:n.119C>A | ||
| ENST00000645220.1:c.424C>A MANE Select | ENSP00000494186.1:p.Pro142Thr | |
| ENST00000342947.7:c.424C>A | ENSP00000339587.3:p.Pro142Thr | |
| ENST00000409775.7:c.424C>A | ENSP00000386670.3:p.Pro142Thr | |
| ENST00000409970.5:c.-69C>A | ENSP00000387119.1:n.-69C>A | |
| ENST00000411476.2:c.193C>A | ENSP00000414090.2:p.Pro65Thr | |
| ENST00000414428.1:c.-69C>A | ENSP00000413963.1:n.-69C>A | |
| ENST00000419307.5:c.-69C>A | ENSP00000401332.1:n.-69C>A | |
| ENST00000493723.5:n.443C>A | ||
| ENST00000559637.5:n.119C>A | ||
| NM_001127453.1:c.424C>A | NP_001120925.1:p.Pro142Thr | |
| NM_001127454.1:c.-69C>A | NP_001120926.1:n.-69C>A | |
| NM_004403.2:c.424C>A | NP_004394.1:p.Pro142Thr | |
| XM_017011802.1:c.-69C>A | XP_016867291.1:n.-69C>A | |
| XM_024446670.1:c.424C>A | XP_024302438.1:p.Pro142Thr | |
| NM_004403.3:c.424C>A | NP_004394.1:p.Pro142Thr | |
| NM_001127453.2:c.424C>A MANE Select | NP_001120925.1:p.Pro142Thr | |
| NM_001127454.2:c.-69C>A | NP_001120926.1:n.-69C>A |