dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153782444T>A , CM000666.2:g.153782444T>A | GRCh38 |
| NC_000004.11:g.154703596T>A , CM000666.1:g.154703596T>A | GRCh37 |
| NC_000004.10:g.154923046T>A | NCBI36 |
| NG_046941.1:g.11633A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274063.5:c.584-689A>T MANE Select | ENSP00000274063.4:n.584-689A>T | |
| ENST00000274063.4:c.584-689A>T | ENSP00000274063.4:n.584-689A>T | |
| NM_003013.2:c.584-689A>T | NP_003004.1:n.584-689A>T | |
| NM_003013.3:c.584-689A>T MANE Select | NP_003004.1:n.584-689A>T |