Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189571743A>T , CM000664.2:g.189571743A>T | GRCh38 |
| NC_000002.11:g.190436469A>T , CM000664.1:g.190436469A>T | GRCh37 |
| NC_000002.10:g.190144714A>T | NCBI36 |
| NG_009027.1:g.14069T>A , LRG_837:g.14069T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.486T>A MANE Select | ENSP00000261024.3:p.Val162= | |
| ENST00000261024.6:c.486T>A | ENSP00000261024.2:p.Val162= | |
| ENST00000427241.5:c.486T>A | ENSP00000390005.1:p.Val162= | |
| NM_014585.5:c.486T>A , LRG_837t1:c.486T>A | NP_055400.1:p.Val162= | |
| XM_005246505.1:c.366T>A | XP_005246562.1:p.Val122= | |
| XM_005246505.2:c.366T>A | XP_005246562.1:p.Val122= | |
| XM_017003938.2:c.366T>A | XP_016859427.1:p.Val122= | |
| NM_014585.6:c.486T>A MANE Select | NP_055400.1:p.Val162= |