HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188994273G>C , CM000664.2:g.188994273G>C | GRCh38 |
NC_000002.11:g.189858999G>C , CM000664.1:g.189858999G>C | GRCh37 |
NC_000002.10:g.189567244G>C | NCBI36 |
NG_007404.1:g.24901G>C , LRG_3:g.24901G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.1135G>C | ENSP00000415346.2:p.Ala379Pro | |
ENST00000304636.9:c.1234G>C MANE Select | ENSP00000304408.4:p.Ala412Pro | |
ENST00000304636.7:c.1234G>C | ENSP00000304408.3:p.Ala412Pro | |
ENST00000317840.9:c.1234G>C | ENSP00000315243.6:p.Ala412Pro | |
ENST00000450867.1:c.233G>C | ||
NM_000090.3:c.1234G>C , LRG_3t1:c.1234G>C | NP_000081.1:p.Ala412Pro | |
NM_000090.4:c.1234G>C MANE Select | NP_000081.2:p.Ala412Pro |