HGVS | Genome Assembly |
---|---|
NC_000012.12:g.69350224G>C , CM000674.2:g.69350224G>C | GRCh38 |
NC_000012.11:g.69744004G>C , CM000674.1:g.69744004G>C | GRCh37 |
NC_000012.10:g.68030271G>C | NCBI36 |
NG_008195.1:g.6871G>C , LRG_768:g.6871G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261267.7:c.253G>C MANE Select | ENSP00000261267.2:p.Asp85His | |
ENST00000261267.6:c.253G>C | ENSP00000261267.2:p.Asp85His | |
ENST00000548839.1:c.253G>C | ENSP00000449969.1:p.Asp85His | |
ENST00000549690.1:c.253G>C | ENSP00000449898.1:p.Asp85His | |
NM_000239.2:c.253G>C , LRG_768t1:c.253G>C | NP_000230.1:p.Asp85His | |
NM_000239.3:c.253G>C MANE Select | NP_000230.1:p.Asp85His |