Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170081G= , CM000674.2:g.65170081G= | GRCh38 |
| NC_000012.11:g.65563861G= , CM000674.1:g.65563861G= | GRCh37 |
| NC_000012.10:g.63850128G= | NCBI36 |
| NG_016210.1:g.5511G= | |
| NG_016210.2:g.5511G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.485G= MANE Select | ENSP00000308369.2:p.Arg162= | |
| ENST00000308330.2:c.485G= | ENSP00000308369.2:p.Arg162= | |
| ENST00000541171.1:n.499G= | ||
| NM_001167614.1:c.485G= | NP_001161086.1:p.Arg162= | |
| NM_014319.4:c.485G= | NP_055134.2:p.Arg162= | |
| NM_014319.5:c.485G= MANE Select | NP_055134.2:p.Arg162= | |
| NM_001167614.2:c.485G= | NP_001161086.1:p.Arg162= |