Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994286C= , CM000664.2:g.188994286C= | GRCh38 |
| NC_000002.11:g.189859012C= , CM000664.1:g.189859012C= | GRCh37 |
| NC_000002.10:g.189567257C= | NCBI36 |
| NG_007404.1:g.24914C= , LRG_3:g.24914C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1148C= | ENSP00000415346.2:p.Pro383= | |
| ENST00000304636.9:c.1247C= MANE Select | ENSP00000304408.4:p.Pro416= | |
| ENST00000304636.7:c.1247C= | ENSP00000304408.3:p.Pro416= | |
| ENST00000317840.9:c.1247C= | ENSP00000315243.6:p.Pro416= | |
| ENST00000450867.1:c.246C= | ||
| NM_000090.3:c.1247C= , LRG_3t1:c.1247C= | NP_000081.1:p.Pro416= | |
| NM_000090.4:c.1247C= MANE Select | NP_000081.2:p.Pro416= |