Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556527A= , CM000664.2:g.202556527A= | GRCh38 |
| NC_000002.11:g.203421250A= , CM000664.1:g.203421250A= | GRCh37 |
| NC_000002.10:g.203129495A= | NCBI36 |
| NG_009363.1:g.185201A= , LRG_712:g.185201A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2862A= MANE Select | ENSP00000363708.4:p.Ile954= | |
| ENST00000638587.1:c.2793A= | ENSP00000491062.1:n.2793A= | |
| ENST00000374574.2:c.1587-3169A= | ENSP00000363702.2:n.1587-3169A= | |
| ENST00000374580.8:c.2862A= | ENSP00000363708.4:p.Ile954= | |
| NM_001204.6:c.2862A= , LRG_712t1:c.2862A= | NP_001195.2:p.Ile954= | |
| XM_011511687.1:c.2862A= | XP_011509989.1:p.Ile954= | |
| XM_011511688.1:c.1587-3169A= | XP_011509990.1:n.1587-3169A= | |
| NM_001204.7:c.2862A= MANE Select | NP_001195.2:p.Ile954= |