Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186265999C>A , CM000666.2:g.186265999C>A | GRCh38 |
| NC_000004.11:g.187187153C>A , CM000666.1:g.187187153C>A | GRCh37 |
| NC_000004.10:g.187424147C>A | NCBI36 |
| NG_008051.1:g.5036C>A , LRG_583:g.5036C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.6:c.-298C>A | ENSP00000384957.2:n.-298C>A | |
| NM_000128.3:c.-298C>A , LRG_583t1:c.-298C>A | NP_000119.1:n.-298C>A | |
| XM_005262821.2:c.-298C>A | XP_005262878.1:n.-298C>A | |
| XM_005262822.2:c.-298C>A | XP_005262879.1:n.-298C>A | |
| XM_005262823.2:c.-298C>A | XP_005262880.1:n.-298C>A | |
| XM_005262824.1:c.-298C>A | XP_005262881.1:n.-298C>A | |
| XM_006714137.1:c.-298C>A | XP_006714200.1:n.-298C>A | |
| XR_938706.1:n.55C>A | ||
| XR_938707.1:n.55C>A | ||
| NM_001354804.1:c.-298C>A | NP_001341733.1:n.-298C>A | |
| XM_005262821.4:c.-298C>A | XP_005262878.1:n.-298C>A | |
| XM_005262822.4:c.-298C>A | XP_005262879.1:n.-298C>A | |
| XM_005262823.4:c.-298C>A | XP_005262880.1:n.-298C>A | |
| XM_006714137.3:c.-298C>A | XP_006714200.1:n.-298C>A | |
| XM_017007884.2:c.-298C>A | XP_016863373.1:n.-298C>A | |
| XM_017007885.2:c.-298C>A | XP_016863374.1:n.-298C>A | |
| XM_017007886.2:c.-298C>A | XP_016863375.1:n.-298C>A | |
| XR_001741172.2:n.36C>A |