HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157543154C>G , CM000667.2:g.157543154C>G | GRCh38 |
NC_000005.9:g.156970162C>G , CM000667.1:g.156970162C>G | GRCh37 |
NC_000005.8:g.156902740C>G | NCBI36 |
NG_046960.1:g.37670G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000257527.9:c.252-5163G>C MANE Select | ENSP00000257527.5:n.252-5163G>C | |
ENST00000257527.8:c.252-5163G>C | ENSP00000257527.4:n.252-5163G>C | |
ENST00000517905.1:c.252-5163G>C | ENSP00000428654.1:n.252-5163G>C | |
ENST00000517951.5:c.252-5163G>C | ENSP00000428376.1:n.252-5163G>C | |
NM_033274.4:c.252-5163G>C | NP_150377.1:n.252-5163G>C | |
XM_005266003.2:c.252-5163G>C | XP_005266060.1:n.252-5163G>C | |
NM_033274.5:c.252-5163G>C MANE Select | NP_150377.1:n.252-5163G>C |