Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348733A>C , CM000685.2:g.101348733A>C | GRCh38 |
| NC_000023.10:g.100603721A>C , CM000685.1:g.100603721A>C | GRCh37 |
| NC_000023.9:g.100490377A>C | NCBI36 |
| NG_009616.1:g.42492T>G , LRG_128:g.42492T>G | |
| NG_011734.1:g.5237T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.-69T>G MANE Select | ENSP00000361993.3:n.-69T>G | |
| ENST00000644112.2:c.-69T>G | ENSP00000494385.1:n.-69T>G | |
| ENST00000372902.3:c.-69T>G | ENSP00000361993.3:n.-69T>G | |
| ENST00000480575.1:n.17T>G | ||
| NM_004085.3:c.-69T>G | NP_004076.1:n.-69T>G | |
| NM_004085.4:c.-69T>G MANE Select | NP_004076.1:n.-69T>G | |
| NM_001145951.2:c.-69T>G | NP_001139423.1:n.-69T>G |