Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11975269G>T , CM000663.2:g.11975269G>T | GRCh38 |
| NC_000001.10:g.12035326G>T , CM000663.1:g.12035326G>T | GRCh37 |
| NC_000001.9:g.11957913G>T | NCBI36 |
| NG_007945.1:g.89G>T , LRG_255:g.89G>T | |
| NG_008159.1:g.45581G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.*461G>T MANE Select | ENSP00000196061.4:n.*461G>T | |
| ENST00000196061.4:c.*461G>T | ENSP00000196061.4:n.*461G>T | |
| ENST00000481933.1:n.2072G>T | ||
| ENST00000491536.5:n.384-14G>T | ||
| NM_000302.3:c.*461G>T | NP_000293.2:n.*461G>T | |
| NM_001316320.1:c.*461G>T | NP_001303249.1:n.*461G>T | |
| XM_011541594.1:c.*461G>T | XP_011539896.1:n.*461G>T | |
| XM_024447707.1:c.*461G>T | XP_024303475.1:n.*461G>T | |
| NM_000302.4:c.*461G>T MANE Select | NP_000293.2:n.*461G>T | |
| NM_001316320.2:c.*461G>T | NP_001303249.1:n.*461G>T |