HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21001653A>G , CM000664.2:g.21001653A>G | GRCh38 |
NC_000002.11:g.21224525A>G , CM000664.1:g.21224525A>G | GRCh37 |
NC_000002.10:g.21078030A>G | NCBI36 |
NG_011793.1:g.47421T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233242.5:c.*77T>C MANE Select | ENSP00000233242.1:n.*77T>C | |
ENST00000616098.4:c.13767T>C | ENSP00000477990.1:n.13767T>C | |
NM_000384.2:c.*77T>C | NP_000375.2:n.*77T>C | |
XM_011532809.1:c.5870-2380T>C | XP_011531111.1:n.5870-2380T>C | |
NM_000384.3:c.*77T>C MANE Select | NP_000375.3:n.*77T>C |