Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202542382C= , CM000664.2:g.202542382C= | GRCh38 |
| NC_000002.11:g.203407105C= , CM000664.1:g.203407105C= | GRCh37 |
| NC_000002.10:g.203115350C= | NCBI36 |
| NG_009363.1:g.171056C= , LRG_712:g.171056C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1348C= MANE Select | ENSP00000363708.4:p.Gln450= | |
| ENST00000638587.1:c.1279C= | ENSP00000491062.1:p.Gln427= | |
| ENST00000374574.2:c.1348C= | ENSP00000363702.2:p.Gln450= | |
| ENST00000374580.8:c.1348C= | ENSP00000363708.4:p.Gln450= | |
| NM_001204.6:c.1348C= , LRG_712t1:c.1348C= | NP_001195.2:p.Gln450= | |
| XM_011511687.1:c.1348C= | XP_011509989.1:p.Gln450= | |
| XM_011511688.1:c.1348C= | XP_011509990.1:p.Gln450= | |
| NM_001204.7:c.1348C= MANE Select | NP_001195.2:p.Gln450= |