HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31357197T>G , CM000668.2:g.31357197T>G | GRCh38 |
NC_000006.11:g.31324974T>G , CM000668.1:g.31324974T>G | GRCh37 |
NC_000006.10:g.31432953T>G | NCBI36 |
NG_023187.1:g.5016A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.1435A>C | ||
ENST00000481849.6:n.1435A>C | ||
ENST00000497377.6:n.1435A>C | ||
ENST00000696559.1:c.-39A>C | ENSP00000512717.1:n.-39A>C | |
ENST00000696560.1:c.-39A>C | ENSP00000512718.1:n.-39A>C | |
ENST00000696561.1:c.-39A>C | ENSP00000512719.1:n.-39A>C | |
ENST00000696562.1:c.-39A>C | ENSP00000512720.1:n.-39A>C | |
ENST00000603274.1:n.551T>G | ||
NM_005514.6:c.-39A>C | NP_005505.2:n.-39A>C | |
NM_005514.7:c.-39A>C | NP_005505.2:n.-39A>C |