Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965358C>A , CM000681.2:g.48965358C>A | GRCh38 |
| NC_000019.9:g.49468615C>A , CM000681.1:g.49468615C>A | GRCh37 |
| NC_000019.8:g.54160427C>A | NCBI36 |
| NG_008152.1:g.5050C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.-150C>A MANE Select | NP_000137.2:n.-150C>A |
| ENST00000331825.11:c.-150C>A MANE Select | ENSP00000366525.2:n.-150C>A |
| NM_000146.3:c.-150C>A | NP_000137.2:n.-150C>A |
| ENST00000331825.10:c.-150C>A | ENSP00000366525.2:n.-150C>A |
| ENST00000622577.2:c.-150C>A | ENSP00000484043.1:n.-150C>A |
| XM_024451447.1:c.361C>A | XP_024307215.1:p.Arg121= |