HGVS | Genome Assembly |
---|---|
NC_000012.12:g.66209649G>C , CM000674.2:g.66209649G>C | GRCh38 |
NC_000012.11:g.66603429G>C , CM000674.1:g.66603429G>C | GRCh37 |
NC_000012.10:g.64889696G>C | NCBI36 |
NG_021194.1:g.25452G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261233.9:c.381+129G>C MANE Select | ENSP00000261233.4:n.381+129G>C | |
ENST00000261233.8:c.381+129G>C | ENSP00000261233.4:n.381+129G>C | |
ENST00000457197.2:c.198+129G>C | ENSP00000409852.2:n.198+129G>C | |
NM_001142523.1:c.198+129G>C | NP_001135995.1:n.198+129G>C | |
NM_007199.2:c.381+129G>C | NP_009130.2:n.381+129G>C | |
NM_001142523.2:c.198+129G>C | NP_001135995.1:n.198+129G>C | |
NM_007199.3:c.381+129G>C MANE Select | NP_009130.2:n.381+129G>C |