HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75005868T>C , CM000676.2:g.75005868T>C | GRCh38 |
NC_000014.8:g.75472571T>C , CM000676.1:g.75472571T>C | GRCh37 |
NC_000014.7:g.74542324T>C | NCBI36 |
NG_013333.1:g.7960T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000266126.10:c.600T>C MANE Select | ENSP00000266126.5:p.Gly200= | |
ENST00000266126.9:c.600T>C | ENSP00000266126.5:p.Gly200= | |
ENST00000553401.5:c.598T>C | ENSP00000451681.1:p.Ser200Pro | |
ENST00000556028.5:c.598-29T>C | ENSP00000452311.1:n.598-29T>C | |
NM_014239.3:c.600T>C | NP_055054.1:p.Gly200= | |
NM_014239.4:c.600T>C MANE Select | NP_055054.1:p.Gly200= |