Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192553G>T , CM000685.2:g.50192553G>T | GRCh38 |
| NC_000023.10:g.49957204G>T , CM000685.1:g.49957204G>T | GRCh37 |
| NC_000023.9:g.49843944G>T | NCBI36 |
| NG_012552.1:g.13461C>A | |
| NG_012552.2:g.13461C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2160C>A MANE Select | ENSP00000351327.2:p.Ala720= | |
| ENST00000358526.6:c.2160C>A | ENSP00000351327.2:p.Ala720= | |
| ENST00000376064.7:c.2133C>A | ENSP00000365232.3:p.Ala711= | |
| ENST00000481402.5:n.2272C>A | ||
| NM_003886.2:c.2160C>A | NP_003877.2:p.Ala720= | |
| NM_139289.1:c.2133C>A | NP_647450.1:p.Ala711= | |
| NM_003886.3:c.2160C>A MANE Select | NP_003877.2:p.Ala720= | |
| NM_139289.2:c.2133C>A | NP_647450.1:p.Ala711= |