HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816234C>G , CM000681.2:g.4816234C>G | GRCh38 |
NC_000019.9:g.4816246C>G , CM000681.1:g.4816246C>G | GRCh37 |
NC_000019.8:g.4767246C>G | NCBI36 |
NG_031998.1:g.20509G>C , LRG_358:g.20509G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.*5G>C MANE Select | ENSP00000248244.4:n.*5G>C | |
ENST00000248244.5:c.*5G>C | ENSP00000248244.4:n.*5G>C | |
NM_182919.3:c.*5G>C , LRG_358t1:c.*5G>C | NP_891549.1:n.*5G>C | |
NM_001385678.1:c.*5G>C | NP_001372607.1:n.*5G>C | |
NM_001385679.1:c.*5G>C | NP_001372608.1:n.*5G>C | |
NM_001385680.1:c.*5G>C | NP_001372609.1:n.*5G>C | |
NM_182919.4:c.*5G>C MANE Select | NP_891549.1:n.*5G>C |