Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149986612G>A , CM000667.2:g.149986612G>A | GRCh38 |
| NC_000005.9:g.149366175G>A , CM000667.1:g.149366175G>A | GRCh37 |
| NC_000005.8:g.149346368G>A | NCBI36 |
| NG_007147.2:g.27730G>A , LRG_684:g.27730G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.*4799G>A MANE Select | NP_000103.2:n.*4799G>A |
| ENST00000286298.5:c.*4799G>A MANE Select | ENSP00000286298.4:n.*4799G>A |
| NM_000112.3:c.*4799G>A , LRG_684t1:c.*4799G>A | NP_000103.2:n.*4799G>A |
| ENST00000286298.4:c.*4799G>A | ENSP00000286298.4:n.*4799G>A |
| ENST00000503336.1:c.373-6598G>A | ENSP00000426053.1:n.373-6598G>A |
| XM_017009191.2:c.*4696G>A | XP_016864680.1:n.*4696G>A |