HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31357178C>T , CM000668.2:g.31357178C>T | GRCh38 |
NC_000006.11:g.31324955C>T , CM000668.1:g.31324955C>T | GRCh37 |
NC_000006.10:g.31432934C>T | NCBI36 |
NG_023187.1:g.5035G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000474381.2:n.1454G>A | ||
ENST00000481849.6:n.1454G>A | ||
ENST00000497377.6:n.1454G>A | ||
ENST00000696559.1:c.-20G>A | ENSP00000512717.1:n.-20G>A | |
ENST00000696560.1:c.-20G>A | ENSP00000512718.1:n.-20G>A | |
ENST00000696561.1:c.-20G>A | ENSP00000512719.1:n.-20G>A | |
ENST00000696562.1:c.-20G>A | ENSP00000512720.1:n.-20G>A | |
ENST00000412585.7:c.-20G>A MANE Select | ENSP00000399168.2:n.-20G>A | |
ENST00000412585.6:c.-20G>A | ENSP00000399168.2:n.-20G>A | |
ENST00000434333.1:c.-115G>A | ENSP00000405931.1:n.-115G>A | |
ENST00000498007.1:n.2G>A | ||
ENST00000603274.1:n.532C>T | ||
NM_005514.6:c.-20G>A | NP_005505.2:n.-20G>A | |
NM_005514.7:c.-20G>A | NP_005505.2:n.-20G>A | |
NM_005514.8:c.-20G>A MANE Select | NP_005505.2:n.-20G>A |