Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451747T>C , CM000665.2:g.52451747T>C | GRCh38 |
| NC_000003.11:g.52485763T>C , CM000665.1:g.52485763T>C | GRCh37 |
| NC_000003.10:g.52460803T>C | NCBI36 |
| NG_008963.1:g.7295A>G , LRG_378:g.7295A>G | |
| NG_033112.1:g.1240T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.314A>G MANE Select | NP_003271.1:p.Asp105Gly |
| ENST00000232975.8:c.314A>G MANE Select | ENSP00000232975.3:p.Asp105Gly |
| NM_003280.2:c.314A>G , LRG_378t1:c.314A>G | NP_003271.1:p.Asp105Gly |
| ENST00000232975.7:c.314A>G | ENSP00000232975.3:p.Asp105Gly |
| ENST00000461086.1:n.245A>G | |
| ENST00000496590.1:c.182A>G | ENSP00000420596.1:p.Asp61Gly |