HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572957T>G , CM000685.2:g.47572957T>G | GRCh38 |
NC_000023.10:g.47432356T>G , CM000685.1:g.47432356T>G | GRCh37 |
NC_000023.9:g.47317300T>G | NCBI36 |
NG_008437.1:g.51901A>C | |
NG_016339.1:g.16841T>G | |
NG_016339.2:g.16841T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2025A>C MANE Select | ENSP00000295987.7:p.Pro675= | |
ENST00000340666.5:c.1987A>C | ENSP00000343206.4:p.Ser663Arg | |
ENST00000640721.1:c.75A>C | ENSP00000492857.1:p.Pro25= | |
ENST00000295987.11:c.2025A>C | ENSP00000295987.7:p.Pro675= | |
ENST00000340666.4:c.1987A>C | ENSP00000343206.4:p.Ser663Arg | |
NM_006950.3:c.2025A>C MANE Select | NP_008881.2:p.Pro675= | |
NM_133499.2:c.1987A>C | NP_598006.1:p.Ser663Arg |