Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42839192A>G , CM000670.2:g.42839192A>G | GRCh38 |
| NC_000008.10:g.42694335A>G , CM000670.1:g.42694335A>G | GRCh37 |
| NC_000008.9:g.42813492A>G | NCBI36 |
| NG_011837.1:g.9140T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254250.7:c.261T>C MANE Select | ENSP00000254250.3:p.His87= | |
| ENST00000345117.2:c.72-856T>C | ENSP00000344966.2:n.72-856T>C | |
| ENST00000529779.1:c.261T>C | ENSP00000433912.1:p.His87= | |
| NM_018105.2:c.261T>C | NP_060575.1:p.His87= | |
| NM_199003.1:c.72-856T>C | NP_945354.1:n.72-856T>C | |
| NM_018105.3:c.261T>C MANE Select | NP_060575.1:p.His87= | |
| NM_199003.2:c.72-856T>C | NP_945354.1:n.72-856T>C |