HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128344388T>G , CM000667.2:g.128344388T>G | GRCh38 |
NC_000005.9:g.127680080T>G , CM000667.1:g.127680080T>G | GRCh37 |
NC_000005.8:g.127707979T>G | NCBI36 |
NG_008750.1:g.198656A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262464.9:c.3340A>C MANE Select | ENSP00000262464.4:p.Thr1114Pro | |
ENST00000262464.8:c.3340A>C | ENSP00000262464.4:p.Thr1114Pro | |
ENST00000508053.5:c.3340A>C | ENSP00000424571.1:p.Thr1114Pro | |
ENST00000508989.5:c.3241A>C | ENSP00000425596.1:p.Thr1081Pro | |
ENST00000619499.4:c.3337A>C | ENSP00000482132.1:p.Thr1113Pro | |
NM_001999.3:c.3340A>C | NP_001990.2:p.Thr1114Pro | |
XM_017009228.2:c.3187A>C | XP_016864717.1:p.Thr1063Pro | |
NM_001999.4:c.3340A>C MANE Select | NP_001990.2:p.Thr1114Pro |