Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406758A>G , CM000666.2:g.47406758A>G | GRCh38 |
| NC_000004.11:g.47408775A>G , CM000666.1:g.47408775A>G | GRCh37 |
| NC_000004.10:g.47103532A>G | NCBI36 |
| NG_051831.1:g.380481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.912A>G MANE Select | ENSP00000295454.3:p.Lys304= | |
| ENST00000295454.7:c.912A>G | ENSP00000295454.3:p.Lys304= | |
| NM_000812.3:c.912A>G | NP_000803.2:p.Lys304= | |
| XM_011513678.1:c.891A>G | XP_011511980.1:p.Lys297= | |
| XM_017007985.1:c.261A>G | XP_016863474.1:p.Lys87= | |
| XM_024453976.1:c.813A>G | XP_024309744.1:p.Lys271= | |
| XM_024453977.1:c.813A>G | XP_024309745.1:p.Lys271= | |
| XM_024453978.1:c.813A>G | XP_024309746.1:p.Lys271= | |
| NM_000812.4:c.912A>G MANE Select | NP_000803.2:p.Lys304= |