Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113116890T= , CM000664.2:g.113116890T= | GRCh38 |
| NC_000002.11:g.113874467T= , CM000664.1:g.113874467T= | GRCh37 |
| NC_000002.10:g.113590938T= | NCBI36 |
| NG_021240.1:g.3998T= , LRG_188:g.3998T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-3176T= | ENSP00000387210.1:n.-272-3176T= | |
| ENST00000465812.6:n.647-647T= | ||
| ENST00000409052.5:c.-272-3176T= | ENSP00000387210.1:n.-272-3176T= | |
| ENST00000465812.5:n.372-647T= | ||
| XM_011511121.1:c.-272-3176T= | XP_011509423.1:n.-272-3176T= |