HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161222403C>G , CM000663.2:g.161222403C>G | GRCh38 |
NC_000001.10:g.161192193C>G , CM000663.1:g.161192193C>G | GRCh37 |
NC_000001.9:g.159458817C>G | NCBI36 |
NG_012043.1:g.6226G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367990.7:c.*2G>C MANE Select | ENSP00000356969.3:n.*2G>C | |
ENST00000463812.1:c.*2G>C | ENSP00000476890.1:n.*2G>C | |
ENST00000464492.5:c.*2G>C | ENSP00000476911.1:n.*2G>C | |
ENST00000468465.5:c.*2G>C | ENSP00000476662.1:n.*2G>C | |
ENST00000470459.6:c.*2G>C | ENSP00000477031.1:n.*2G>C | |
ENST00000481413.1:n.816G>C | ||
ENST00000481511.5:c.*302G>C | ENSP00000477054.1:n.*302G>C | |
ENST00000491350.1:c.*88G>C | ENSP00000477353.1:n.*88G>C | |
NM_001643.1:c.*2G>C | NP_001634.1:n.*2G>C | |
NM_001643.2:c.*2G>C MANE Select | NP_001634.1:n.*2G>C |