HGVS | Genome Assembly |
---|---|
NC_000004.12:g.47406708A>C , CM000666.2:g.47406708A>C | GRCh38 |
NC_000004.11:g.47408725A>C , CM000666.1:g.47408725A>C | GRCh37 |
NC_000004.10:g.47103482A>C | NCBI36 |
NG_051831.1:g.380431A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295454.8:c.862A>C MANE Select | ENSP00000295454.3:p.Thr288Pro | |
ENST00000295454.7:c.862A>C | ENSP00000295454.3:p.Thr288Pro | |
NM_000812.3:c.862A>C | NP_000803.2:p.Thr288Pro | |
XM_011513678.1:c.841A>C | XP_011511980.1:p.Thr281Pro | |
XM_017007985.1:c.211A>C | XP_016863474.1:p.Thr71Pro | |
XM_024453976.1:c.763A>C | XP_024309744.1:p.Thr255Pro | |
XM_024453977.1:c.763A>C | XP_024309745.1:p.Thr255Pro | |
XM_024453978.1:c.763A>C | XP_024309746.1:p.Thr255Pro | |
NM_000812.4:c.862A>C MANE Select | NP_000803.2:p.Thr288Pro |