HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124219T>G , CM000664.2:g.71124219T>G | GRCh38 |
NC_000002.11:g.71351349T>G , CM000664.1:g.71351349T>G | GRCh37 |
NC_000002.10:g.71204857T>G | NCBI36 |
NG_008977.1:g.11046A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.365A>C MANE Select | ENSP00000244217.5:p.His122Pro | |
ENST00000244217.5:c.365A>C | ENSP00000244217.5:p.His122Pro | |
ENST00000413592.5:c.84+149A>C | ENSP00000391140.1:n.84+149A>C | |
ENST00000486135.1:c.80A>C | ENSP00000441569.1:p.His27Pro | |
ENST00000494660.6:c.80A>C | ENSP00000437361.1:p.His27Pro | |
NM_032601.3:c.365A>C | NP_115990.3:p.His122Pro | |
XM_005264613.2:c.216+149A>C | XP_005264670.1:n.216+149A>C | |
XR_939729.1:n.434A>C | ||
XR_939729.2:n.434A>C | ||
NM_032601.4:c.365A>C MANE Select | NP_115990.3:p.His122Pro |