Linked Data
ClinVar Variation Id:
1313715
ClinVar RCV Id:
RCV001769361
dbSNP Id:
rs765273800
ExAC:
5:176940013 G / A
gnomAD v2:
5-176940013-G-A
gnomAD v3:
5-177513012-G-A
gnomAD v4:
5-177513012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177513012G>A , CM000667.2:g.177513012G>A | GRCh38 |
| NC_000005.9:g.176940013G>A , CM000667.1:g.176940013G>A | GRCh37 |
| NC_000005.8:g.176872619G>A | NCBI36 |
| NG_046846.1:g.9315C>T | |
| NG_046846.2:g.8950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330503.12:c.1301C>T MANE Select | ENSP00000330349.8:p.Pro434Leu | |
| ENST00000507955.6:c.1448C>T | ENSP00000422753.2:n.1448C>T | |
| ENST00000650742.1:n.1284C>T | ||
| ENST00000652565.1:n.416C>T | ||
| ENST00000652618.1:n.1298C>T | ||
| ENST00000652623.1:n.1373C>T | ||
| ENST00000330503.11:c.1355C>T | ENSP00000330349.7:p.Pro452Leu | |
| ENST00000503078.5:n.1594C>T | ||
| ENST00000504807.5:n.412C>T | ||
| ENST00000505081.5:n.2168C>T | ||
| ENST00000507900.5:n.805C>T | ||
| ENST00000507955.5:c.1301C>T | ENSP00000422753.1:p.Pro434Leu | |
| ENST00000512027.1:n.573C>T | ||
| NM_016222.2:c.1301C>T | NP_057306.2:p.Pro434Leu | |
| XM_006714870.1:c.923C>T | XP_006714933.1:p.Pro308Leu | |
| NM_001321732.1:c.923C>T | NP_001308661.1:p.Pro308Leu | |
| NM_001321830.1:c.923C>T | NP_001308759.1:p.Pro308Leu | |
| NM_016222.3:c.1301C>T | NP_057306.2:p.Pro434Leu | |
| XM_024446109.1:c.944C>T | XP_024301877.1:p.Pro315Leu | |
| NM_016222.4:c.1301C>T MANE Select | NP_057306.2:p.Pro434Leu | |
| NM_001321732.2:c.923C>T | NP_001308661.1:p.Pro308Leu | |
| NM_001321830.2:c.923C>T | NP_001308759.1:p.Pro308Leu |