HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572958G>T , CM000685.2:g.47572958G>T | GRCh38 |
NC_000023.10:g.47432357G>T , CM000685.1:g.47432357G>T | GRCh37 |
NC_000023.9:g.47317301G>T | NCBI36 |
NG_008437.1:g.51900C>A | |
NG_016339.1:g.16842G>T | |
NG_016339.2:g.16842G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2024C>A MANE Select | ENSP00000295987.7:p.Pro675Gln | |
ENST00000340666.5:c.1986C>A | ENSP00000343206.4:p.Ala662= | |
ENST00000640721.1:c.74C>A | ENSP00000492857.1:p.Pro25Gln | |
ENST00000295987.11:c.2024C>A | ENSP00000295987.7:p.Pro675Gln | |
ENST00000340666.4:c.1986C>A | ENSP00000343206.4:p.Ala662= | |
NM_006950.3:c.2024C>A MANE Select | NP_008881.2:p.Pro675Gln | |
NM_133499.2:c.1986C>A | NP_598006.1:p.Ala662= |