Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965374A>T , CM000681.2:g.48965374A>T | GRCh38 |
| NC_000019.9:g.49468631A>T , CM000681.1:g.49468631A>T | GRCh37 |
| NC_000019.8:g.54160443A>T | NCBI36 |
| NG_008152.1:g.5066A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000146.4:c.-134A>T MANE Select | NP_000137.2:n.-134A>T |
| ENST00000331825.11:c.-134A>T MANE Select | ENSP00000366525.2:n.-134A>T |
| NM_000146.3:c.-134A>T | NP_000137.2:n.-134A>T |
| ENST00000331825.10:c.-134A>T | ENSP00000366525.2:n.-134A>T |
| ENST00000622577.2:c.-134A>T | ENSP00000484043.1:n.-134A>T |
| XM_024451447.1:c.377A>T | XP_024307215.1:p.Asp126Val |