Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50193070G>C , CM000685.2:g.50193070G>C | GRCh38 |
| NC_000023.10:g.49957721G>C , CM000685.1:g.49957721G>C | GRCh37 |
| NC_000023.9:g.49844461G>C | NCBI36 |
| NG_012552.1:g.12944C>G | |
| NG_012552.2:g.12944C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1643C>G MANE Select | ENSP00000351327.2:p.Ala548Gly | |
| ENST00000358526.6:c.1643C>G | ENSP00000351327.2:p.Ala548Gly | |
| ENST00000376064.7:c.1616C>G | ENSP00000365232.3:p.Ala539Gly | |
| ENST00000448865.5:c.542-48C>G | ENSP00000402403.1:n.542-48C>G | |
| ENST00000481402.5:n.1755C>G | ||
| NM_003886.2:c.1643C>G | NP_003877.2:p.Ala548Gly | |
| NM_139289.1:c.1616C>G | NP_647450.1:p.Ala539Gly | |
| NM_003886.3:c.1643C>G MANE Select | NP_003877.2:p.Ala548Gly | |
| NM_139289.2:c.1616C>G | NP_647450.1:p.Ala539Gly |