HGVS | Genome Assembly |
---|---|
NC_000012.12:g.50107640G>C , CM000674.2:g.50107640G>C | GRCh38 |
NC_000012.11:g.50501423G>C , CM000674.1:g.50501423G>C | GRCh37 |
NC_000012.10:g.48787690G>C | NCBI36 |
NG_032155.1:g.660G>C | |
NG_032168.1:g.8822G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301149.8:c.686G>C MANE Select | ENSP00000301149.3:p.Arg229Pro | |
ENST00000301149.7:c.686G>C | ENSP00000301149.3:p.Arg229Pro | |
ENST00000547190.5:n.656-384G>C | ||
ENST00000548814.1:c.617G>C | ENSP00000446768.1:p.Arg206Pro | |
NM_001257199.1:c.617G>C | NP_001244128.1:p.Arg206Pro | |
NM_005276.3:c.686G>C | NP_005267.2:p.Arg229Pro | |
NM_005276.4:c.686G>C MANE Select | NP_005267.2:p.Arg229Pro | |
NM_001257199.2:c.617G>C | NP_001244128.1:p.Arg206Pro |