HGVS | Genome Assembly |
---|---|
NC_000002.12:g.74145141G>T , CM000664.2:g.74145141G>T | GRCh38 |
NC_000002.11:g.74372268G>T , CM000664.1:g.74372268G>T | GRCh37 |
NC_000002.10:g.74225776G>T | NCBI36 |
NG_031910.1:g.7772C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327428.10:c.169+48C>A MANE Select | ENSP00000331369.5:n.169+48C>A | |
ENST00000295326.4:c.169+48C>A | ENSP00000295326.4:n.169+48C>A | |
ENST00000327428.9:c.169+48C>A | ENSP00000331369.5:n.169+48C>A | |
ENST00000469676.1:n.1192+48C>A | ||
ENST00000477685.5:n.320+48C>A | ||
ENST00000484655.1:n.2724+48C>A | ||
NM_001035505.1:c.169+48C>A | NP_001030582.1:n.169+48C>A | |
NM_212552.2:c.169+48C>A | NP_997717.2:n.169+48C>A | |
NM_212552.3:c.169+48C>A MANE Select | NP_997717.2:n.169+48C>A | |
NM_001035505.2:c.169+48C>A | NP_001030582.1:n.169+48C>A |