HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022679A>G , CM000685.2:g.155022679A>G | GRCh38 |
NC_000023.10:g.154250954A>G , CM000685.1:g.154250954A>G | GRCh37 |
NC_000023.9:g.153904148A>G | NCBI36 |
NG_011403.1:g.5045T>C | |
NG_011403.2:g.5045T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.-127T>C MANE Select | ENSP00000353393.4:n.-127T>C | |
ENST00000647125.1:c.-127T>C | ENSP00000496062.1:n.-127T>C | |
ENST00000360256.8:c.-127T>C | ENSP00000353393.4:n.-127T>C | |
ENST00000423959.5:c.38+4101T>C | ENSP00000409446.1:n.38+4101T>C | |
ENST00000453950.1:c.39-183T>C | ENSP00000389153.1:n.39-183T>C | |
NM_000132.3:c.-127T>C | NP_000123.1:n.-127T>C | |
XM_011531126.1:c.38+4101T>C | XP_011529428.1:n.38+4101T>C | |
NM_000132.4:c.-127T>C MANE Select | NP_000123.1:n.-127T>C |