Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133524893A>G , CM000671.2:g.133524893A>G | GRCh38 |
| NC_000009.11:g.136390015A>G , CM000671.1:g.136390015A>G | GRCh37 |
| NC_000009.10:g.135379836A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080483.3:c.-49T>C MANE Select | NP_001073952.1:n.-49T>C |
| ENST00000339996.4:c.-49T>C MANE Select | ENSP00000419712.2:n.-49T>C |
| NM_001080483.2:c.-49T>C | NP_001073952.1:n.-49T>C |
| ENST00000339996.3:c.-49T>C | ENSP00000419712.2:n.-49T>C |
| ENST00000413714.1:n.190+3530T>C | |
| XM_011518673.1:c.60+3530T>C | XP_011516975.1:n.60+3530T>C |