Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48683802T>C , CM000685.2:g.48683802T>C | GRCh38 |
| NC_000023.10:g.48542191T>C , CM000685.1:g.48542191T>C | GRCh37 |
| NC_000023.9:g.48427135T>C | NCBI36 |
| NG_007877.1:g.5006T>C , LRG_125:g.5006T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698625.1:c.-34-18T>C | ENSP00000513844.1:n.-34-18T>C | |
| ENST00000376701.5:c.-52T>C MANE Select | ENSP00000365891.4:n.-52T>C | |
| ENST00000376701.4:c.-52T>C | ENSP00000365891.4:n.-52T>C | |
| ENST00000450772.5:c.-34-18T>C | ENSP00000410537.1:n.-34-18T>C | |
| NM_000377.2:c.-52T>C , LRG_125t1:c.-52T>C | NP_000368.1:n.-52T>C | |
| XM_011543977.1:c.-52T>C | XP_011542279.1:n.-52T>C | |
| XM_011543977.2:c.-52T>C | XP_011542279.1:n.-52T>C | |
| XM_017029786.1:c.-52T>C | XP_016885275.1:n.-52T>C | |
| NM_000377.3:c.-52T>C MANE Select | NP_000368.1:n.-52T>C |