HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861186A>G , CM000668.2:g.31861186A>G | GRCh38 |
NC_000006.11:g.31828963A>G , CM000668.1:g.31828963A>G | GRCh37 |
NC_000006.10:g.31936942A>G | NCBI36 |
NG_008201.1:g.6747T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.615+2T>C MANE Select | ENSP00000364782.4:n.615+2T>C | |
ENST00000677054.1:n.1294T>C | ||
ENST00000677512.1:n.723+2T>C | ||
ENST00000678869.1:n.725T>C | ||
ENST00000375631.4:c.615+2T>C | ENSP00000364782.4:n.615+2T>C | |
ENST00000480384.1:n.644+2T>C | ||
ENST00000491768.5:c.615+2T>C | ENSP00000433127.1:n.615+2T>C | |
ENST00000495807.1:n.1185T>C | ||
NM_000434.3:c.615+2T>C | NP_000425.1:n.615+2T>C | |
NM_000434.4:c.615+2T>C MANE Select | NP_000425.1:n.615+2T>C |