HGVS | Genome Assembly |
---|---|
NC_000023.11:g.49191403C>G , CM000685.2:g.49191403C>G | GRCh38 |
NC_000023.10:g.49047860C>G , CM000685.1:g.49047860C>G | GRCh37 |
NC_000023.9:g.48934804C>G | NCBI36 |
NG_012532.1:g.13802G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000689634.1:n.2563G>C | ||
ENST00000692723.1:n.972+30G>C | ||
ENST00000263233.9:c.*4+30G>C MANE Select | ENSP00000263233.4:n.*4+30G>C | |
ENST00000263233.8:c.*4+30G>C | ENSP00000263233.4:n.*4+30G>C | |
ENST00000376303.6:c.*698+30G>C | ENSP00000365480.2:n.*698+30G>C | |
ENST00000472598.5:c.615+30G>C | ||
ENST00000479808.5:c.*34G>C | ENSP00000418169.1:n.*34G>C | |
NM_003179.2:c.*4+30G>C | NP_003170.1:n.*4+30G>C | |
XM_011543950.1:c.*4+30G>C | XP_011542252.1:n.*4+30G>C | |
XM_011543951.1:c.*4+30G>C | XP_011542253.1:n.*4+30G>C | |
NM_003179.3:c.*4+30G>C MANE Select | NP_003170.1:n.*4+30G>C |