HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050255C>G , CM000664.2:g.189050255C>G | GRCh38 |
NC_000002.11:g.189914981C>G , CM000664.1:g.189914981C>G | GRCh37 |
NC_000002.10:g.189623226C>G | NCBI36 |
NG_011799.1:g.134625G>C | |
NG_011799.2:g.134625G>C | |
NG_011799.3:g.180047G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.3039+314G>C MANE Select | ENSP00000364000.3:n.3039+314G>C | |
ENST00000374866.7:c.3039+314G>C | ENSP00000364000.3:n.3039+314G>C | |
ENST00000618828.1:c.1878+314G>C | ENSP00000482184.1:n.1878+314G>C | |
NM_000393.3:c.3039+314G>C | NP_000384.2:n.3039+314G>C | |
XM_011510573.1:c.2901+314G>C | XP_011508875.1:n.2901+314G>C | |
NM_000393.4:c.3039+314G>C | NP_000384.2:n.3039+314G>C | |
XM_011510573.3:c.2901+314G>C | XP_011508875.1:n.2901+314G>C | |
NM_000393.5:c.3039+314G>C MANE Select | NP_000384.2:n.3039+314G>C |