HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98542019C>T , CM000671.2:g.98542019C>T | GRCh38 |
NC_000009.11:g.101304301C>T , CM000671.1:g.101304301C>T | GRCh37 |
NC_000009.10:g.100344122C>T | NCBI36 |
NG_016426.1:g.172179G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.484G>A MANE Select | ENSP00000259455.2:p.Val162Ile | |
ENST00000637410.1:n.262G>A | ||
ENST00000637717.1:c.100G>A | ENSP00000490789.1:p.Val34Ile | |
ENST00000638001.1:n.94G>A | ||
ENST00000259455.3:c.484G>A | ENSP00000259455.2:p.Val162Ile | |
ENST00000477471.1:n.271G>A | ||
ENST00000634227.1:n.258G>A | ||
NM_005458.7:c.484G>A | NP_005449.5:p.Val162Ile | |
XM_017015331.2:c.190G>A | XP_016870820.1:p.Val64Ile | |
NM_005458.8:c.484G>A MANE Select | NP_005449.5:p.Val162Ile |