Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21739673G>T , CM000669.2:g.21739673G>T | GRCh38 |
| NC_000007.13:g.21779291G>T , CM000669.1:g.21779291G>T | GRCh37 |
| NC_000007.12:g.21745816G>T | NCBI36 |
| NG_012886.2:g.201459G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.7914G>T MANE Select | NP_001264044.1:p.Gln2638His |
| ENST00000409508.8:c.7914G>T MANE Select | ENSP00000475939.1:p.Gln2638His |
| NM_001277115.1:c.7914G>T | NP_001264044.1:p.Gln2638His |
| ENST00000328843.10:c.7935G>T | ENSP00000330671.7:p.Gln2645His |
| ENST00000409508.7:c.7914G>T | ENSP00000475939.1:p.Gln2638His |
| ENST00000605912.1:c.474G>T | ENSP00000476068.1:p.Gln158His |
| ENST00000620169.4:c.7935G>T | ENSP00000481693.1:p.Gln2645His |