HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74685512T>A , CM000667.2:g.74685512T>A | GRCh38 |
NC_000005.9:g.73981337T>A , CM000667.1:g.73981337T>A | GRCh37 |
NC_000005.8:g.74017093T>A | NCBI36 |
NG_009770.1:g.5369T>A | |
NG_009770.2:g.50490T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.252T>A MANE Select | ENSP00000261416.7:p.Asn84Lys | |
ENST00000261416.11:c.252T>A | ENSP00000261416.7:p.Asn84Lys | |
ENST00000511181.5:c.-376-3816T>A | ENSP00000426285.1:n.-376-3816T>A | |
ENST00000513079.5:n.317T>A | ||
ENST00000515528.1:n.307T>A | ||
NM_000521.3:c.252T>A | NP_000512.1:p.Asn84Lys | |
NM_001292004.1:c.-376-3816T>A | NP_001278933.1:n.-376-3816T>A | |
NM_000521.4:c.252T>A MANE Select | NP_000512.2:p.Asn84Lys | |
NM_001292004.2:c.-376-3816T>A | NP_001278933.1:n.-376-3816T>A |