HGVS | Genome Assembly |
---|---|
NC_000007.14:g.122995119A>C , CM000669.2:g.122995119A>C | GRCh38 |
NC_000007.13:g.122635173A>C , CM000669.1:g.122635173A>C | GRCh37 |
NC_000007.12:g.122422409A>C | NCBI36 |
NG_011980.1:g.5582T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249284.3:c.516T>G MANE Select | ENSP00000249284.2:p.Asn172Lys | |
NM_016945.2:c.516T>G | NP_058641.1:p.Asn172Lys | |
NM_016945.3:c.516T>G MANE Select | NP_058641.1:p.Asn172Lys |