HGVS | Genome Assembly |
---|---|
NC_000013.11:g.23181070T>C , CM000675.2:g.23181070T>C | GRCh38 |
NC_000013.10:g.23755209T>C , CM000675.1:g.23755209T>C | GRCh37 |
NC_000013.9:g.22653209T>C | NCBI36 |
NG_008759.1:g.5150T>C , LRG_207:g.5150T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218867.4:c.-6T>C MANE Select | ENSP00000218867.3:n.-6T>C | |
ENST00000218867.3:c.-6T>C | ENSP00000218867.3:n.-6T>C | |
NM_000231.2:c.-6T>C , LRG_207t1:c.-6T>C | NP_000222.1:n.-6T>C | |
XM_005266505.2:c.-157T>C | XP_005266562.1:n.-157T>C | |
XM_006719861.2:c.54+20424T>C | XP_006719924.1:n.54+20424T>C | |
XM_006719861.3:c.54+20424T>C | XP_006719924.1:n.54+20424T>C | |
XM_024449397.1:c.-152+87T>C | XP_024305165.1:n.-152+87T>C | |
NM_000231.3:c.-6T>C MANE Select | NP_000222.2:n.-6T>C | |
NM_001378244.1:c.54+20424T>C | NP_001365173.1:n.54+20424T>C | |
NM_001378245.1:c.-152+87T>C | NP_001365174.1:n.-152+87T>C | |
NM_001378246.1:c.-157T>C | NP_001365175.1:n.-157T>C |