HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98542139T>C , CM000671.2:g.98542139T>C | GRCh38 |
NC_000009.11:g.101304421T>C , CM000671.1:g.101304421T>C | GRCh37 |
NC_000009.10:g.100344242T>C | NCBI36 |
NG_016426.1:g.172059A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.460-96A>G MANE Select | ENSP00000259455.2:n.460-96A>G | |
ENST00000637410.1:n.238-96A>G | ||
ENST00000637717.1:c.76-96A>G | ENSP00000490789.1:n.76-96A>G | |
ENST00000638001.1:n.70-96A>G | ||
ENST00000259455.3:c.460-96A>G | ENSP00000259455.2:n.460-96A>G | |
ENST00000477471.1:n.247-96A>G | ||
ENST00000634227.1:n.234-96A>G | ||
NM_005458.7:c.460-96A>G | NP_005449.5:n.460-96A>G | |
XM_017015331.2:c.166-96A>G | XP_016870820.1:n.166-96A>G | |
NM_005458.8:c.460-96A>G MANE Select | NP_005449.5:n.460-96A>G |