HGVS | Genome Assembly |
---|---|
NC_000004.12:g.148053451T>C , CM000666.2:g.148053451T>C | GRCh38 |
NC_000004.11:g.148974602T>C , CM000666.1:g.148974602T>C | GRCh37 |
NC_000004.10:g.149194052T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336498.8:c.2027+6400T>C MANE Select | ENSP00000336923.3:n.2027+6400T>C | |
ENST00000336498.7:c.2027+6400T>C | ENSP00000336923.3:n.2027+6400T>C | |
ENST00000506020.5:n.1102+6400T>C | ||
ENST00000506054.5:n.7159+6400T>C | ||
ENST00000507661.1:c.1059+6400T>C | ||
ENST00000513548.1:n.520+6400T>C | ||
NM_024605.3:c.2027+6400T>C | NP_078881.3:n.2027+6400T>C | |
XM_005263215.2:c.2027+6400T>C | XP_005263272.1:n.2027+6400T>C | |
XM_011532243.1:c.1673+6400T>C | XP_011530545.1:n.1673+6400T>C | |
XM_011532244.1:c.1718+6400T>C | XP_011530546.1:n.1718+6400T>C | |
XM_005263215.3:c.2027+6400T>C | XP_005263272.1:n.2027+6400T>C | |
XM_017008602.1:c.1751+6400T>C | XP_016864091.1:n.1751+6400T>C | |
XR_001741324.1:n.2226+6400T>C | ||
NM_024605.4:c.2027+6400T>C MANE Select | NP_078881.3:n.2027+6400T>C |