Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388307A>G , CM000665.2:g.190388307A>G | GRCh38 |
| NC_000003.11:g.190106096A>G , CM000665.1:g.190106096A>G | GRCh37 |
| NC_000003.10:g.191588790A>G | NCBI36 |
| NG_008149.1:g.5256A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006580.4:c.-23A>G MANE Select | NP_006571.2:n.-23A>G |
| ENST00000264734.3:c.-23A>G MANE Select | ENSP00000264734.3:n.-23A>G |
| NM_001378492.1:c.-23A>G | NP_001365421.1:n.-23A>G |
| NM_001378493.1:c.-23A>G | NP_001365422.1:n.-23A>G |
| NM_006580.3:c.188A>G | NP_006571.1:p.His63Arg |
| ENST00000264734.2:c.188A>G | ENSP00000264734.2:p.His63Arg |
| ENST00000456423.1:c.188A>G | ENSP00000414136.1:p.His63Arg |
| ENST00000456423.2:c.-23A>G | ENSP00000414136.2:n.-23A>G |
| ENST00000468220.1:n.306+13704A>G |