HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12904527G>C , CM000686.2:g.12904527G>C | GRCh38 |
NC_000024.9:g.15016438G>C , CM000686.1:g.15016438G>C | GRCh37 |
NC_000024.8:g.13525832G>C | NCBI36 |
NG_012831.1:g.5420G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360160.8:c.-3+113G>C | ENSP00000353284.4:n.-3+113G>C | |
ENST00000454054.5:c.-80+113G>C | ENSP00000398953.1:n.-80+113G>C | |
NM_001122665.2:c.-3+113G>C | NP_001116137.1:n.-3+113G>C | |
NM_001122665.3:c.-3+113G>C | NP_001116137.1:n.-3+113G>C |