Linked Data
ClinVar Variation Id:
968665
ClinVar RCV Id:
RCV001243857
dbSNP Id:
rs772809607
ExAC:
1:173873157 A / G
gnomAD v2:
1-173873157-A-G
gnomAD v3:
1-173904019-A-G
gnomAD v4:
1-173904019-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173904019A>G , CM000663.2:g.173904019A>G | GRCh38 |
| NC_000001.10:g.173873157A>G , CM000663.1:g.173873157A>G | GRCh37 |
| NC_000001.9:g.172139780A>G | NCBI36 |
| NG_012462.1:g.18360T>C , LRG_577:g.18360T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1265T>C MANE Select | ENSP00000356671.3:p.Ile422Thr | |
| ENST00000367698.3:c.1265T>C | ENSP00000356671.3:p.Ile422Thr | |
| ENST00000617423.4:c.650T>C | ENSP00000478688.1:p.Ile217Thr | |
| NM_000488.3:c.1265T>C , LRG_577t1:c.1265T>C | NP_000479.1:p.Ile422Thr | |
| XM_005245198.2:c.1121T>C | XP_005245255.1:p.Ile374Thr | |
| NM_001365052.1:c.1121T>C | NP_001351981.1:p.Ile374Thr | |
| NM_000488.4:c.1265T>C MANE Select | NP_000479.1:p.Ile422Thr | |
| NM_001365052.2:c.1121T>C | NP_001351981.1:p.Ile374Thr | |
| NM_001386302.1:c.1388T>C | NP_001373231.1:p.Ile463Thr | |
| NM_001386303.1:c.1346T>C | NP_001373232.1:p.Ile449Thr | |
| NM_001386304.1:c.1244T>C | NP_001373233.1:p.Ile415Thr | |
| NM_001386305.1:c.1208T>C | NP_001373234.1:p.Ile403Thr | |
| NM_001386306.1:c.1049T>C | NP_001373235.1:p.Ile350Thr |