Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451736G>A , CM000665.2:g.52451736G>A | GRCh38 |
| NC_000003.11:g.52485752G>A , CM000665.1:g.52485752G>A | GRCh37 |
| NC_000003.10:g.52460792G>A | NCBI36 |
| NG_008963.1:g.7306C>T , LRG_378:g.7306C>T | |
| NG_033112.1:g.1229G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.317+8C>T MANE Select | NP_003271.1:n.317+8C>T |
| ENST00000232975.8:c.317+8C>T MANE Select | ENSP00000232975.3:n.317+8C>T |
| NM_003280.2:c.317+8C>T , LRG_378t1:c.317+8C>T | NP_003271.1:n.317+8C>T |
| ENST00000232975.7:c.317+8C>T | ENSP00000232975.3:n.317+8C>T |
| ENST00000461086.1:n.248+8C>T | |
| ENST00000496590.1:c.185+8C>T | ENSP00000420596.1:n.185+8C>T |