Linked Data
ClinVar Variation Id:
18031
ClinVar RCV Id:
RCV000019647
dbSNP Id:
rs121909564
gnomAD v4:
1-173903902-G-A
PubMed:
PMID:8476848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903902G>A , CM000663.2:g.173903902G>A | GRCh38 |
| NC_000001.10:g.173873040G>A , CM000663.1:g.173873040G>A | GRCh37 |
| NC_000001.9:g.172139663G>A | NCBI36 |
| NG_012462.1:g.18477C>T , LRG_577:g.18477C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1382C>T MANE Select | ENSP00000356671.3:p.Pro461Leu | |
| ENST00000367698.3:c.1382C>T | ENSP00000356671.3:p.Pro461Leu | |
| ENST00000617423.4:c.767C>T | ENSP00000478688.1:p.Pro256Leu | |
| NM_000488.3:c.1382C>T , LRG_577t1:c.1382C>T | NP_000479.1:p.Pro461Leu | |
| XM_005245198.2:c.1238C>T | XP_005245255.1:p.Pro413Leu | |
| NM_001365052.1:c.1238C>T | NP_001351981.1:p.Pro413Leu | |
| NM_000488.4:c.1382C>T MANE Select | NP_000479.1:p.Pro461Leu | |
| NM_001365052.2:c.1238C>T | NP_001351981.1:p.Pro413Leu | |
| NM_001386302.1:c.1505C>T | NP_001373231.1:p.Pro502Leu | |
| NM_001386303.1:c.1463C>T | NP_001373232.1:p.Pro488Leu | |
| NM_001386304.1:c.1361C>T | NP_001373233.1:p.Pro454Leu | |
| NM_001386305.1:c.1325C>T | NP_001373234.1:p.Pro442Leu | |
| NM_001386306.1:c.1166C>T | NP_001373235.1:p.Pro389Leu |