Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78777989T>C , CM000667.2:g.78777989T>C | GRCh38 |
| NC_000005.9:g.78073812T>C , CM000667.1:g.78073812T>C | GRCh37 |
| NC_000005.8:g.78109568T>C | NCBI36 |
| NG_007089.1:g.213546A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000046.5:c.*2408A>G MANE Select | NP_000037.2:n.*2408A>G |
| ENST00000264914.10:c.*2408A>G MANE Select | ENSP00000264914.4:n.*2408A>G |
| NM_000046.3:c.*2408A>G | NP_000037.2:n.*2408A>G |
| NM_000046.4:c.*2408A>G | NP_000037.2:n.*2408A>G |
| ENST00000264914.8:c.*2408A>G | ENSP00000264914.4:n.*2408A>G |
| XM_011543390.1:c.*2408A>G | XP_011541692.1:n.*2408A>G |