Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957071C>G , CM000685.2:g.154957071C>G | GRCh38 |
| NC_000023.10:g.154185346C>G , CM000685.1:g.154185346C>G | GRCh37 |
| NC_000023.9:g.153838540C>G | NCBI36 |
| NG_011403.1:g.70653G>C | |
| NG_011403.2:g.70653G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1638G>C MANE Select | ENSP00000353393.4:p.Arg546= | |
| ENST00000647125.1:c.*1514G>C | ENSP00000496062.1:n.*1514G>C | |
| ENST00000360256.8:c.1638G>C | ENSP00000353393.4:p.Arg546= | |
| NM_000132.3:c.1638G>C | NP_000123.1:p.Arg546= | |
| XM_011531126.1:c.1533G>C | XP_011529428.1:p.Arg511= | |
| NM_000132.4:c.1638G>C MANE Select | NP_000123.1:p.Arg546= |