HGVS | Genome Assembly |
---|---|
NC_000012.12:g.119187024G>C , CM000674.2:g.119187024G>C | GRCh38 |
NC_000012.11:g.119624829G>C , CM000674.1:g.119624829G>C | GRCh37 |
NC_000012.10:g.118109212G>C | NCBI36 |
NG_007953.2:g.13235G>C , LRG_249:g.13235G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000281938.7:c.368-1G>C MANE Select | ENSP00000281938.3:n.368-1G>C | |
ENST00000674542.1:c.368-6675G>C | ENSP00000502352.1:n.368-6675G>C | |
ENST00000674715.1:n.541-1G>C | ||
ENST00000675900.1:n.21+4988G>C | ||
ENST00000676071.1:n.101-1G>C | ||
ENST00000676244.1:n.74-1G>C | ||
ENST00000281938.6:c.368-1G>C | ENSP00000281938.2:n.368-1G>C | |
ENST00000541798.1:c.91-1G>C | ||
ENST00000542496.1:n.225G>C | ||
NM_014365.2:c.368-1G>C , LRG_249t1:c.368-1G>C | NP_055180.1:n.368-1G>C | |
NM_014365.3:c.368-1G>C MANE Select | NP_055180.1:n.368-1G>C |