HGVS | Genome Assembly |
---|---|
NC_000007.14:g.122995119A>G , CM000669.2:g.122995119A>G | GRCh38 |
NC_000007.13:g.122635173A>G , CM000669.1:g.122635173A>G | GRCh37 |
NC_000007.12:g.122422409A>G | NCBI36 |
NG_011980.1:g.5582T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249284.3:c.516T>C MANE Select | ENSP00000249284.2:p.Asn172= | |
NM_016945.2:c.516T>C | NP_058641.1:p.Asn172= | |
NM_016945.3:c.516T>C MANE Select | NP_058641.1:p.Asn172= |