HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98542132C>A , CM000671.2:g.98542132C>A | GRCh38 |
NC_000009.11:g.101304414C>A , CM000671.1:g.101304414C>A | GRCh37 |
NC_000009.10:g.100344235C>A | NCBI36 |
NG_016426.1:g.172066G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.460-89G>T MANE Select | ENSP00000259455.2:n.460-89G>T | |
ENST00000637410.1:n.238-89G>T | ||
ENST00000637717.1:c.76-89G>T | ENSP00000490789.1:n.76-89G>T | |
ENST00000638001.1:n.70-89G>T | ||
ENST00000259455.3:c.460-89G>T | ENSP00000259455.2:n.460-89G>T | |
ENST00000477471.1:n.247-89G>T | ||
ENST00000634227.1:n.234-89G>T | ||
NM_005458.7:c.460-89G>T | NP_005449.5:n.460-89G>T | |
XM_017015331.2:c.166-89G>T | XP_016870820.1:n.166-89G>T | |
NM_005458.8:c.460-89G>T MANE Select | NP_005449.5:n.460-89G>T |