Linked Data
ClinVar Variation Id:
627228
dbSNP Id:
rs1487411568
gnomAD v3:
1-173903969-G-T
gnomAD v4:
1-173903969-G-T
COSMIC:
COSM899810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903969G>T , CM000663.2:g.173903969G>T | GRCh38 |
| NC_000001.10:g.173873107G>T , CM000663.1:g.173873107G>T | GRCh37 |
| NC_000001.9:g.172139730G>T | NCBI36 |
| NG_012462.1:g.18410C>A , LRG_577:g.18410C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1315C>A MANE Select | ENSP00000356671.3:p.Pro439Thr | |
| ENST00000367698.3:c.1315C>A | ENSP00000356671.3:p.Pro439Thr | |
| ENST00000617423.4:c.700C>A | ENSP00000478688.1:p.Pro234Thr | |
| NM_000488.3:c.1315C>A , LRG_577t1:c.1315C>A | NP_000479.1:p.Pro439Thr | |
| XM_005245198.2:c.1171C>A | XP_005245255.1:p.Pro391Thr | |
| NM_001365052.1:c.1171C>A | NP_001351981.1:p.Pro391Thr | |
| NM_000488.4:c.1315C>A MANE Select | NP_000479.1:p.Pro439Thr | |
| NM_001365052.2:c.1171C>A | NP_001351981.1:p.Pro391Thr | |
| NM_001386302.1:c.1438C>A | NP_001373231.1:p.Pro480Thr | |
| NM_001386303.1:c.1396C>A | NP_001373232.1:p.Pro466Thr | |
| NM_001386304.1:c.1294C>A | NP_001373233.1:p.Pro432Thr | |
| NM_001386305.1:c.1258C>A | NP_001373234.1:p.Pro420Thr | |
| NM_001386306.1:c.1099C>A | NP_001373235.1:p.Pro367Thr |