HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31354129A>G , CM000668.2:g.31354129A>G | GRCh38 |
NC_000006.11:g.31321906A>G , CM000668.1:g.31321906A>G | GRCh37 |
NC_000006.10:g.31429885A>G | NCBI36 |
NG_023187.1:g.8084T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.3308T>C | ||
ENST00000481849.6:n.3268T>C | ||
ENST00000497377.6:n.3175T>C | ||
ENST00000696558.1:c.1330T>C | ENSP00000512716.1:n.1330T>C | |
ENST00000696559.1:c.*172T>C | ENSP00000512717.1:n.*172T>C | |
ENST00000696560.1:c.*172T>C | ENSP00000512718.1:n.*172T>C | |
ENST00000696561.1:c.*172T>C | ENSP00000512719.1:n.*172T>C | |
ENST00000696562.1:c.*172T>C | ENSP00000512720.1:n.*172T>C | |
ENST00000412585.7:c.*172T>C MANE Select | ENSP00000399168.2:n.*172T>C | |
ENST00000412585.6:c.*172T>C | ENSP00000399168.2:n.*172T>C | |
ENST00000481849.5:n.496T>C | ||
ENST00000497377.5:n.660T>C | ||
NM_005514.6:c.*172T>C | NP_005505.2:n.*172T>C | |
XM_011514556.1:c.*172T>C | XP_011512858.1:n.*172T>C | |
XM_011514557.1:c.*172T>C | XP_011512859.1:n.*172T>C | |
XR_926175.1:n.1700T>C | ||
NM_005514.7:c.*172T>C | NP_005505.2:n.*172T>C | |
NM_005514.8:c.*172T>C MANE Select | NP_005505.2:n.*172T>C |