HGVS | Genome Assembly |
---|---|
NC_000005.10:g.107646866A>T , CM000667.2:g.107646866A>T | GRCh38 |
NC_000005.9:g.106982567A>T , CM000667.1:g.106982567A>T | GRCh37 |
NC_000005.8:g.107010466A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333274.11:c.125+23623T>A MANE Select | ENSP00000328777.6:n.125+23623T>A | |
ENST00000333274.10:c.125+23623T>A | ENSP00000328777.6:n.125+23623T>A | |
ENST00000504941.1:n.397+23623T>A | ||
ENST00000509503.1:c.125+23623T>A | ENSP00000426989.1:n.125+23623T>A | |
NM_001962.2:c.125+23623T>A | NP_001953.1:n.125+23623T>A | |
XM_006714565.1:c.125+23623T>A | XP_006714628.1:n.125+23623T>A | |
XM_006714565.3:c.125+23623T>A | XP_006714628.1:n.125+23623T>A | |
NM_001962.3:c.125+23623T>A MANE Select | NP_001953.1:n.125+23623T>A |