Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154896103G= , CM000685.2:g.154896103G= | GRCh38 |
| NC_000023.10:g.154124378G= , CM000685.1:g.154124378G= | GRCh37 |
| NC_000023.9:g.153777572G= | NCBI36 |
| NG_011403.1:g.131621C= | |
| NG_011403.2:g.131621C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6403C= MANE Select | NP_000123.1:p.Arg2135= |
| ENST00000360256.9:c.6403C= MANE Select | ENSP00000353393.4:p.Arg2135= |
| NM_000132.3:c.6403C= | NP_000123.1:p.Arg2135= |
| ENST00000360256.8:c.6403C= | ENSP00000353393.4:p.Arg2135= |
| XM_011531126.1:c.6298C= | XP_011529428.1:p.Arg2100= |