HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204159295C>G , CM000663.2:g.204159295C>G | GRCh38 |
NC_000001.10:g.204128423C>G , CM000663.1:g.204128423C>G | GRCh37 |
NC_000001.9:g.202395046C>G | NCBI36 |
NG_012122.1:g.12043G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272190.9:c.689+104G>C MANE Select | ENSP00000272190.8:n.689+104G>C | |
ENST00000638118.1:c.575+104G>C | ENSP00000490307.1:n.575+104G>C | |
ENST00000272190.8:c.689+104G>C | ENSP00000272190.8:n.689+104G>C | |
NM_000537.3:c.689+104G>C | NP_000528.1:n.689+104G>C | |
NM_000537.4:c.689+104G>C MANE Select | NP_000528.1:n.689+104G>C |