Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41194780T>A , CM000668.2:g.41194780T>A | GRCh38 |
| NC_000006.11:g.41162518T>A , CM000668.1:g.41162518T>A | GRCh37 |
| NC_000006.10:g.41270496T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024807.4:c.430A>T MANE Select | NP_079083.2:p.Ser144Cys |
| ENST00000483722.2:c.430A>T MANE Select | ENSP00000418767.1:p.Ser144Cys |
| NM_024807.3:c.430A>T | NP_079083.2:p.Ser144Cys |
| ENST00000483722.1:c.430A>T | ENSP00000418767.1:p.Ser144Cys |
| XM_011514917.1:c.286A>T | XP_011513219.1:p.Ser96Cys |
| XM_011514917.2:c.286A>T | XP_011513219.1:p.Ser96Cys |