HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154903978G>T , CM000685.2:g.154903978G>T | GRCh38 |
NC_000023.10:g.154132253G>T , CM000685.1:g.154132253G>T | GRCh37 |
NC_000023.9:g.153785447G>T | NCBI36 |
NG_011403.1:g.123746C>A | |
NG_011403.2:g.123746C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.5926C>A MANE Select | ENSP00000353393.4:p.His1976Asn | |
ENST00000360256.8:c.5926C>A | ENSP00000353393.4:p.His1976Asn | |
NM_000132.3:c.5926C>A | NP_000123.1:p.His1976Asn | |
XM_011531126.1:c.5821C>A | XP_011529428.1:p.His1941Asn | |
NM_000132.4:c.5926C>A MANE Select | NP_000123.1:p.His1976Asn |