Linked Data
ClinVar Variation Id:
971341
ClinVar RCV Id:
RCV001247105
dbSNP Id:
rs761314000
gnomAD v2:
15-31362392-G-T
gnomAD v3:
15-31070189-G-T
gnomAD v4:
15-31070189-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31070189G>T , CM000677.2:g.31070189G>T | GRCh38 |
| NC_000015.9:g.31362392G>T , CM000677.1:g.31362392G>T | GRCh37 |
| NC_000015.8:g.29149684G>T | NCBI36 |
| NG_016453.1:g.36533C>A | |
| NG_016453.2:g.96085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.55C>A | ENSP00000518752.1:p.Pro19Thr | |
| ENST00000397795.7:c.55C>A | ENSP00000380897.2:p.Pro19Thr | |
| ENST00000558445.6:c.172C>A | ENSP00000452946.2:p.Pro58Thr | |
| ENST00000559177.6:c.172C>A | ENSP00000453477.2:p.Pro58Thr | |
| ENST00000559179.2:c.55C>A | ENSP00000453851.1:p.Pro19Thr | |
| ENST00000256552.11:c.121C>A MANE Select | ENSP00000256552.7:p.Pro41Thr | |
| ENST00000256552.10:c.121C>A | ENSP00000256552.6:p.Pro41Thr | |
| ENST00000397795.6:c.55C>A | ENSP00000380897.2:p.Pro19Thr | |
| ENST00000542188.5:c.172C>A | ENSP00000437849.1:p.Pro58Thr | |
| ENST00000558445.5:c.55C>A | ENSP00000452946.1:p.Pro19Thr | |
| ENST00000559177.5:c.55C>A | ENSP00000453477.1:p.Pro19Thr | |
| ENST00000559179.1:c.55C>A | ENSP00000453851.1:p.Pro19Thr | |
| ENST00000560658.5:c.55C>A | ENSP00000454077.1:p.Pro19Thr | |
| NM_001252020.1:c.172C>A | NP_001238949.1:p.Pro58Thr | |
| NM_001252024.1:c.121C>A | NP_001238953.1:p.Pro41Thr | |
| NM_001252030.1:c.55C>A | NP_001238959.1:p.Pro19Thr | |
| NM_002420.5:c.55C>A | NP_002411.3:p.Pro19Thr | |
| NM_001252024.2:c.121C>A MANE Select | NP_001238953.1:p.Pro41Thr | |
| NM_001252030.2:c.55C>A | NP_001238959.1:p.Pro19Thr | |
| NM_002420.6:c.55C>A | NP_002411.3:p.Pro19Thr | |
| NM_001252020.2:c.172C>A | NP_001238949.1:p.Pro58Thr |