Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.29213103A>C , CM000681.2:g.29213103A>C | GRCh38 |
| NC_000019.9:g.29704010A>C , CM000681.1:g.29704010A>C | GRCh37 |
| NC_000019.8:g.34395850A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006003.3:c.16T>G MANE Select | NP_005994.2:p.Ser6Ala |
| ENST00000304863.6:c.16T>G MANE Select | ENSP00000306397.3:p.Ser6Ala |
| NM_006003.2:c.16T>G | NP_005994.2:p.Ser6Ala |
| ENST00000304863.5:c.16T>G | ENSP00000306397.3:p.Ser6Ala |