HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98542090G>T , CM000671.2:g.98542090G>T | GRCh38 |
NC_000009.11:g.101304372G>T , CM000671.1:g.101304372G>T | GRCh37 |
NC_000009.10:g.100344193G>T | NCBI36 |
NG_016426.1:g.172108C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.460-47C>A MANE Select | ENSP00000259455.2:n.460-47C>A | |
ENST00000637410.1:n.238-47C>A | ||
ENST00000637717.1:c.76-47C>A | ENSP00000490789.1:n.76-47C>A | |
ENST00000638001.1:n.70-47C>A | ||
ENST00000259455.3:c.460-47C>A | ENSP00000259455.2:n.460-47C>A | |
ENST00000477471.1:n.247-47C>A | ||
ENST00000634227.1:n.234-47C>A | ||
NM_005458.7:c.460-47C>A | NP_005449.5:n.460-47C>A | |
XM_017015331.2:c.166-47C>A | XP_016870820.1:n.166-47C>A | |
NM_005458.8:c.460-47C>A MANE Select | NP_005449.5:n.460-47C>A |