HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30993306C>T , CM000678.2:g.30993306C>T | GRCh38 |
NC_000016.9:g.31004627C>T , CM000678.1:g.31004627C>T | GRCh37 |
NC_000016.8:g.30912128C>T | NCBI36 |
NG_041829.1:g.22203G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000215095.11:c.675+41G>A MANE Select | ENSP00000215095.5:n.675+41G>A | |
ENST00000565419.2:c.675+41G>A | ENSP00000455899.1:n.675+41G>A | |
ENST00000215095.9:c.675+41G>A | ENSP00000215095.5:n.675+41G>A | |
ENST00000565419.1:c.675+41G>A | ENSP00000455899.1:n.675+41G>A | |
ENST00000569638.5:c.423+41G>A | ENSP00000457067.1:n.423+41G>A | |
NM_052874.4:c.675+41G>A | NP_443106.1:n.675+41G>A | |
XM_017022893.1:c.657+41G>A | XP_016878382.1:n.657+41G>A | |
NM_052874.5:c.675+41G>A MANE Select | NP_443106.1:n.675+41G>A |