HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572957T>C , CM000685.2:g.47572957T>C | GRCh38 |
NC_000023.10:g.47432356T>C , CM000685.1:g.47432356T>C | GRCh37 |
NC_000023.9:g.47317300T>C | NCBI36 |
NG_008437.1:g.51901A>G | |
NG_016339.1:g.16841T>C | |
NG_016339.2:g.16841T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2025A>G MANE Select | ENSP00000295987.7:p.Pro675= | |
ENST00000340666.5:c.1987A>G | ENSP00000343206.4:p.Ser663Gly | |
ENST00000640721.1:c.75A>G | ENSP00000492857.1:p.Pro25= | |
ENST00000295987.11:c.2025A>G | ENSP00000295987.7:p.Pro675= | |
ENST00000340666.4:c.1987A>G | ENSP00000343206.4:p.Ser663Gly | |
NM_006950.3:c.2025A>G MANE Select | NP_008881.2:p.Pro675= | |
NM_133499.2:c.1987A>G | NP_598006.1:p.Ser663Gly |