Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206560087A>G , CM000664.2:g.206560087A>G | GRCh38 |
| NC_000002.11:g.207424811A>G , CM000664.1:g.207424811A>G | GRCh37 |
| NC_000002.10:g.207133056A>G | NCBI36 |
| NG_029874.2:g.121444A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264377.8:c.1138A>G MANE Select | ENSP00000264377.3:p.Lys380Glu | |
| ENST00000264377.7:c.1138A>G | ENSP00000264377.3:p.Lys380Glu | |
| ENST00000374415.7:c.1138A>G | ENSP00000363536.3:p.Lys380Glu | |
| NM_003812.3:c.1138A>G | NP_003803.1:p.Lys380Glu | |
| XM_005246932.2:c.1138A>G | XP_005246989.1:p.Lys380Glu | |
| XM_011512086.1:c.1138A>G | XP_011510388.1:p.Lys380Glu | |
| XM_005246932.3:c.1138A>G | XP_005246989.1:p.Lys380Glu | |
| XM_011512086.2:c.1138A>G | XP_011510388.1:p.Lys380Glu | |
| NM_003812.4:c.1138A>G MANE Select | NP_003803.1:p.Lys380Glu |