Linked Data
ClinVar Variation Id:
38355
dbSNP Id:
rs267607258
ExAC:
2:27535443 G / A
gnomAD v2:
2-27535443-G-A
gnomAD v3:
2-27312576-G-A
gnomAD v4:
2-27312576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312576G>A , CM000664.2:g.27312576G>A | GRCh38 |
| NC_000002.11:g.27535443G>A , CM000664.1:g.27535443G>A | GRCh37 |
| NC_000002.10:g.27388947G>A | NCBI36 |
| NG_008075.1:g.14989C>T | |
| NG_033055.1:g.688C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.293C>T MANE Select | ENSP00000369383.1:p.Pro98Leu | |
| ENST00000233545.6:c.293C>T | ENSP00000233545.2:p.Pro98Leu | |
| ENST00000357186.10:c.125C>T | ENSP00000349713.6:p.Pro42Leu | |
| ENST00000380044.5:c.293C>T | ENSP00000369383.1:p.Pro98Leu | |
| ENST00000402310.5:c.293C>T | ENSP00000383955.1:p.Pro98Leu | |
| ENST00000402722.5:c.258C>T | ENSP00000386000.1:p.Pro86= | |
| ENST00000403262.6:c.293C>T | ENSP00000385671.1:p.Pro98Leu | |
| ENST00000405076.5:c.187-330C>T | ENSP00000385175.1:n.187-330C>T | |
| ENST00000405983.5:c.338C>T | ENSP00000384586.1:p.Pro113Leu | |
| ENST00000415514.5:c.*94C>T | ENSP00000388043.1:n.*94C>T | |
| ENST00000426513.6:c.258C>T | ENSP00000403824.2:p.Pro86= | |
| ENST00000428910.5:c.215C>T | ENSP00000405235.1:p.Pro72Leu | |
| ENST00000430991.5:c.209+104C>T | ||
| ENST00000475085.1:n.321C>T | ||
| ENST00000616446.1:n.270C>T | ||
| ENST00000616707.1:n.812C>T | ||
| ENST00000617583.4:n.319C>T | ||
| ENST00000621183.4:n.349C>T | ||
| ENST00000621470.4:n.309C>T | ||
| ENST00000622003.4:n.466C>T | ||
| NM_002437.4:c.293C>T | NP_002428.1:p.Pro98Leu | |
| XM_005264326.2:c.293C>T | XP_005264383.1:p.Pro98Leu | |
| XM_005264327.2:c.134C>T | XP_005264384.1:p.Pro45Leu | |
| XM_006712021.2:c.245C>T | XP_006712084.1:p.Pro82Leu | |
| XM_005264326.4:c.293C>T | XP_005264383.1:p.Pro98Leu | |
| XM_006712021.3:c.245C>T | XP_006712084.1:p.Pro82Leu | |
| XM_017004150.1:c.275C>T | XP_016859639.1:p.Pro92Leu | |
| XM_017004151.1:c.245C>T | XP_016859640.1:p.Pro82Leu | |
| XM_017004152.1:c.134C>T | XP_016859641.1:p.Pro45Leu | |
| XM_024452913.1:c.245C>T | XP_024308681.1:p.Pro82Leu | |
| NM_002437.5:c.293C>T MANE Select | NP_002428.1:p.Pro98Leu |