Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348666C>G , CM000685.2:g.101348666C>G | GRCh38 |
| NC_000023.10:g.100603654C>G , CM000685.1:g.100603654C>G | GRCh37 |
| NC_000023.9:g.100490310C>G | NCBI36 |
| NG_009616.1:g.42559G>C , LRG_128:g.42559G>C | |
| NG_011734.1:g.5304G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.-2G>C MANE Select | ENSP00000361993.3:n.-2G>C | |
| ENST00000644112.2:c.-2G>C | ENSP00000494385.1:n.-2G>C | |
| ENST00000645279.1:c.-2G>C | ENSP00000494239.1:n.-2G>C | |
| ENST00000372902.3:c.-2G>C | ENSP00000361993.3:n.-2G>C | |
| ENST00000480575.1:n.84G>C | ||
| NM_001145951.1:c.-2G>C | NP_001139423.1:n.-2G>C | |
| NM_004085.3:c.-2G>C | NP_004076.1:n.-2G>C | |
| NM_004085.4:c.-2G>C MANE Select | NP_004076.1:n.-2G>C | |
| NM_001145951.2:c.-2G>C | NP_001139423.1:n.-2G>C |