Linked Data
dbSNP Id:
rs777118044
ExAC:
1:173873092 T / C
gnomAD v2:
1-173873092-T-C
gnomAD v3:
1-173903954-T-C
gnomAD v4:
1-173903954-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903954T>C , CM000663.2:g.173903954T>C | GRCh38 |
| NC_000001.10:g.173873092T>C , CM000663.1:g.173873092T>C | GRCh37 |
| NC_000001.9:g.172139715T>C | NCBI36 |
| NG_012462.1:g.18425A>G , LRG_577:g.18425A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1330A>G MANE Select | ENSP00000356671.3:p.Ile444Val | |
| ENST00000367698.3:c.1330A>G | ENSP00000356671.3:p.Ile444Val | |
| ENST00000617423.4:c.715A>G | ENSP00000478688.1:p.Ile239Val | |
| NM_000488.3:c.1330A>G , LRG_577t1:c.1330A>G | NP_000479.1:p.Ile444Val | |
| XM_005245198.2:c.1186A>G | XP_005245255.1:p.Ile396Val | |
| NM_001365052.1:c.1186A>G | NP_001351981.1:p.Ile396Val | |
| NM_000488.4:c.1330A>G MANE Select | NP_000479.1:p.Ile444Val | |
| NM_001365052.2:c.1186A>G | NP_001351981.1:p.Ile396Val | |
| NM_001386302.1:c.1453A>G | NP_001373231.1:p.Ile485Val | |
| NM_001386303.1:c.1411A>G | NP_001373232.1:p.Ile471Val | |
| NM_001386304.1:c.1309A>G | NP_001373233.1:p.Ile437Val | |
| NM_001386305.1:c.1273A>G | NP_001373234.1:p.Ile425Val | |
| NM_001386306.1:c.1114A>G | NP_001373235.1:p.Ile372Val |