HGVS | Genome Assembly |
---|---|
NC_000017.11:g.37490514C>G , CM000679.2:g.37490514C>G | GRCh38 |
NC_000017.10:g.35850620C>G , CM000679.1:g.35850620C>G | GRCh37 |
NC_000017.9:g.32924733C>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000617516.5:c.-181+556C>G MANE Select | ENSP00000478595.1:n.-181+556C>G | |
ENST00000617516.4:c.-181+556C>G | ENSP00000478595.1:n.-181+556C>G | |
NM_007026.3:c.-181+556C>G | NP_008957.1:n.-181+556C>G | |
XM_011524234.1:c.-181+1559C>G | XP_011522536.1:n.-181+1559C>G | |
XM_005256977.3:c.-1294C>G | XP_005257034.1:n.-1294C>G | |
NM_007026.4:c.-181+556C>G MANE Select | NP_008957.1:n.-181+556C>G |