Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928641A>G , CM000685.2:g.154928641A>G | GRCh38 |
| NC_000023.10:g.154156916A>G , CM000685.1:g.154156916A>G | GRCh37 |
| NC_000023.9:g.153810110A>G | NCBI36 |
| NG_011403.1:g.99083T>C | |
| NG_011403.2:g.99083T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.5149T>C MANE Select | NP_000123.1:p.Tyr1717His |
| ENST00000360256.9:c.5149T>C MANE Select | ENSP00000353393.4:p.Tyr1717His |
| NM_000132.3:c.5149T>C | NP_000123.1:p.Tyr1717His |
| ENST00000360256.8:c.5149T>C | ENSP00000353393.4:p.Tyr1717His |
| XM_011531126.1:c.5044T>C | XP_011529428.1:p.Tyr1682His |