Linked Data
ClinVar Variation Id:
31546
ClinVar RCV Id:
RCV000024254
dbSNP Id:
rs387907156
ExAC:
5:136973027 G / A
gnomAD v2:
5-136973027-G-A
gnomAD v3:
5-137637338-G-A
gnomAD v4:
5-137637338-G-A
PubMed:
PMID:22406640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137637338G>A , CM000667.2:g.137637338G>A | GRCh38 |
| NC_000005.9:g.136973027G>A , CM000667.1:g.136973027G>A | GRCh37 |
| NC_000005.8:g.137000926G>A | NCBI36 |
| NG_032569.1:g.103753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1277C>T MANE Select | ENSP00000312397.4:p.Pro426Leu | |
| ENST00000309755.8:c.1277C>T | ENSP00000312397.4:p.Pro426Leu | |
| ENST00000502381.1:n.806+1615C>T | ||
| ENST00000504208.5:c.*335-8901C>T | ENSP00000423585.1:n.*335-8901C>T | |
| ENST00000505853.1:c.1157C>T | ENSP00000426173.1:p.Pro386Leu | |
| ENST00000506491.5:c.1031C>T | ENSP00000424828.1:p.Pro344Leu | |
| ENST00000506873.5:n.844+1615C>T | ||
| ENST00000508657.5:c.1181C>T | ENSP00000422099.1:p.Pro394Leu | |
| NM_001257194.1:c.1181C>T | NP_001244123.1:p.Pro394Leu | |
| NM_001257195.1:c.1031C>T | NP_001244124.1:p.Pro344Leu | |
| NM_017415.2:c.1277C>T | NP_059111.2:p.Pro426Leu | |
| NM_017415.3:c.1277C>T MANE Select | NP_059111.2:p.Pro426Leu | |
| NM_001257195.2:c.1031C>T | NP_001244124.1:p.Pro344Leu |