HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98542393C>T , CM000671.2:g.98542393C>T | GRCh38 |
NC_000009.11:g.101304675C>T , CM000671.1:g.101304675C>T | GRCh37 |
NC_000009.10:g.100344496C>T | NCBI36 |
NG_016426.1:g.171805G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.460-350G>A MANE Select | ENSP00000259455.2:n.460-350G>A | |
ENST00000637410.1:n.238-350G>A | ||
ENST00000637717.1:c.76-350G>A | ENSP00000490789.1:n.76-350G>A | |
ENST00000638001.1:n.70-350G>A | ||
ENST00000259455.3:c.460-350G>A | ENSP00000259455.2:n.460-350G>A | |
ENST00000477471.1:n.247-350G>A | ||
ENST00000634227.1:n.234-350G>A | ||
NM_005458.7:c.460-350G>A | NP_005449.5:n.460-350G>A | |
XM_017015331.2:c.166-350G>A | XP_016870820.1:n.166-350G>A | |
NM_005458.8:c.460-350G>A MANE Select | NP_005449.5:n.460-350G>A |