HGVS | Genome Assembly |
---|---|
NC_000012.12:g.117339603A>G , CM000674.2:g.117339603A>G | GRCh38 |
NC_000012.11:g.117777408A>G , CM000674.1:g.117777408A>G | GRCh37 |
NC_000012.10:g.116261791A>G | NCBI36 |
NG_011991.2:g.27175T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317775.11:c.-420-8114T>C MANE Select | ENSP00000320758.6:n.-420-8114T>C | |
ENST00000317775.10:c.-420-8114T>C | ENSP00000320758.6:n.-420-8114T>C | |
ENST00000549189.1:n.471-8114T>C | ||
ENST00000618760.4:c.-420-8114T>C | ENSP00000477999.1:n.-420-8114T>C | |
NM_000620.4:c.-420-8114T>C | NP_000611.1:n.-420-8114T>C | |
NM_001204218.1:c.-420-8114T>C | NP_001191147.1:n.-420-8114T>C | |
XM_011538398.1:c.-420-8114T>C | XP_011536700.1:n.-420-8114T>C | |
NM_000620.5:c.-420-8114T>C MANE Select | NP_000611.1:n.-420-8114T>C | |
NM_001204218.2:c.-420-8114T>C | NP_001191147.1:n.-420-8114T>C |