Linked Data
dbSNP Id:
rs770814801
ExAC:
18:20572865 C / G
gnomAD v2:
18-20572865-C-G
gnomAD v3:
18-22992902-C-G
gnomAD v4:
18-22992902-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22992902C>G , CM000680.2:g.22992902C>G | GRCh38 |
| NC_000018.9:g.20572865C>G , CM000680.1:g.20572865C>G | GRCh37 |
| NC_000018.8:g.18826863C>G | NCBI36 |
| NG_012121.1:g.64571C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327155.10:c.1075C>G MANE Select | ENSP00000323050.5:p.Leu359Val | |
| ENST00000327155.9:c.1075C>G | ENSP00000323050.5:p.Leu359Val | |
| ENST00000360790.9:c.1075C>G | ENSP00000354024.5:p.Leu359Val | |
| ENST00000399721.6:c.1075C>G | ENSP00000382627.2:p.Leu359Val | |
| ENST00000399722.6:c.1075C>G | ENSP00000382628.2:p.Leu359Val | |
| ENST00000399725.6:c.1075C>G | ENSP00000382630.2:p.Leu359Val | |
| NM_002894.2:c.1075C>G | NP_002885.1:p.Leu359Val | |
| NM_203291.1:c.1075C>G | NP_976036.1:p.Leu359Val | |
| NM_203292.1:c.1075C>G | NP_976037.1:p.Leu359Val | |
| XM_005258325.1:c.1075C>G | XP_005258382.1:p.Leu359Val | |
| XM_005258326.2:c.253C>G | XP_005258383.1:p.Leu85Val | |
| XM_006722519.1:c.1075C>G | XP_006722582.1:p.Leu359Val | |
| XM_006722520.1:c.1075C>G | XP_006722583.1:p.Leu359Val | |
| XM_006722521.1:c.1075C>G | XP_006722584.1:p.Leu359Val | |
| XM_011526132.1:c.1075C>G | XP_011524434.1:p.Leu359Val | |
| XM_005258325.3:c.1075C>G | XP_005258382.1:p.Leu359Val | |
| XM_005258326.4:c.253C>G | XP_005258383.1:p.Leu85Val | |
| XM_006722519.2:c.1075C>G | XP_006722582.1:p.Leu359Val | |
| XM_006722520.2:c.1075C>G | XP_006722583.1:p.Leu359Val | |
| XM_006722521.2:c.1075C>G | XP_006722584.1:p.Leu359Val | |
| XM_011526132.2:c.1075C>G | XP_011524434.1:p.Leu359Val | |
| XM_017025916.1:c.253C>G | XP_016881405.1:p.Leu85Val | |
| XM_024451233.1:c.781C>G | XP_024307001.1:p.Leu261Val | |
| NM_002894.3:c.1075C>G MANE Select | NP_002885.1:p.Leu359Val | |
| NM_203291.2:c.1075C>G | NP_976036.1:p.Leu359Val | |
| NM_203292.2:c.1075C>G | NP_976037.1:p.Leu359Val |