HGVS | Genome Assembly |
---|---|
NC_000001.11:g.206776047A>G , CM000663.2:g.206776047A>G | GRCh38 |
NC_000001.10:g.206949392A>G , CM000663.1:g.206949392A>G | GRCh37 |
NC_000001.9:g.205016015A>G | NCBI36 |
NG_012088.1:g.1448T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000659997.3:c.-149+4969A>G MANE Select | ENSP00000499459.2:n.-149+4969A>G | |
ENST00000656872.2:c.-149+5217A>G | ENSP00000499487.2:n.-149+5217A>G | |
ENST00000659997.2:c.-149+4969A>G | ENSP00000499459.2:n.-149+4969A>G | |
ENST00000662320.1:n.67+5217A>G | ||
NM_153758.3:c.-35+4969A>G | NP_715639.1:n.-35+4969A>G | |
NM_001393490.1:c.-149+5217A>G | NP_001380419.1:n.-149+5217A>G | |
NM_153758.5:c.-149+4969A>G MANE Select | NP_715639.2:n.-149+4969A>G |