Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144475725G>T , CM000670.2:g.144475725G>T | GRCh38 |
| NC_000008.10:g.145701108G>T , CM000670.1:g.145701108G>T | GRCh37 |
| NC_000008.9:g.145671916G>T | NCBI36 |
| NG_030003.1:g.5611C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003923.3:c.32C>A MANE Select | NP_003914.1:p.Pro11His |
| ENST00000377317.5:c.32C>A MANE Select | ENSP00000366534.4:p.Pro11His |
| NM_003923.2:c.32C>A | NP_003914.1:p.Pro11His |
| ENST00000377317.4:c.32C>A | ENSP00000366534.4:p.Pro11His |
| ENST00000525197.1:n.99C>A |