Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43129699A>G , CM000672.2:g.43129699A>G | GRCh38 |
| NC_000010.10:g.43625147A>G , CM000672.1:g.43625147A>G | GRCh37 |
| NC_000010.9:g.42945153A>G | NCBI36 |
| NG_007489.1:g.57631A>G , LRG_518:g.57631A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.*1430A>G MANE Select | NP_066124.1:n.*1430A>G |
| ENST00000355710.8:c.*1430A>G MANE Select | ENSP00000347942.3:n.*1430A>G |
| NM_020975.4:c.*1430A>G , LRG_518t1:c.*1430A>G | NP_066124.1:n.*1430A>G |
| NM_020975.5:c.*1430A>G | NP_066124.1:n.*1430A>G |
| ENST00000355710.7:c.*1430A>G | ENSP00000347942.3:n.*1430A>G |
| ENST00000615310.4:c.*2124A>G | ENSP00000480088.1:n.*2124A>G |
| ENST00000615310.5:c.*2945A>G | ENSP00000480088.2:n.*2945A>G |
| ENST00000683007.1:n.5738A>G | |
| XM_011540027.1:c.*198A>G | XP_011538329.1:n.*198A>G |