HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022553G>A , CM000685.2:g.155022553G>A | GRCh38 |
NC_000023.10:g.154250828G>A , CM000685.1:g.154250828G>A | GRCh37 |
NC_000023.9:g.153904022G>A | NCBI36 |
NG_011403.1:g.5171C>T | |
NG_011403.2:g.5171C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.-1C>T MANE Select | ENSP00000353393.4:n.-1C>T | |
ENST00000647125.1:c.-1C>T | ENSP00000496062.1:n.-1C>T | |
ENST00000360256.8:c.-1C>T | ENSP00000353393.4:n.-1C>T | |
ENST00000423959.5:c.38+4227C>T | ENSP00000409446.1:n.38+4227C>T | |
ENST00000453950.1:c.39-57C>T | ENSP00000389153.1:n.39-57C>T | |
NM_000132.3:c.-1C>T | NP_000123.1:n.-1C>T | |
XM_011531126.1:c.38+4227C>T | XP_011529428.1:n.38+4227C>T | |
NM_000132.4:c.-1C>T MANE Select | NP_000123.1:n.-1C>T |