HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541976A>G , CM000671.2:g.98541976A>G | GRCh38 |
NC_000009.11:g.101304258A>G , CM000671.1:g.101304258A>G | GRCh37 |
NC_000009.10:g.100344079A>G | NCBI36 |
NG_016426.1:g.172222T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.527T>C MANE Select | ENSP00000259455.2:p.Val176Ala | |
ENST00000637410.1:n.305T>C | ||
ENST00000637717.1:c.143T>C | ENSP00000490789.1:p.Val48Ala | |
ENST00000259455.3:c.527T>C | ENSP00000259455.2:p.Val176Ala | |
ENST00000477471.1:n.314T>C | ||
ENST00000634227.1:n.301T>C | ||
NM_005458.7:c.527T>C | NP_005449.5:p.Val176Ala | |
XM_017015331.2:c.233T>C | XP_016870820.1:p.Val78Ala | |
NM_005458.8:c.527T>C MANE Select | NP_005449.5:p.Val176Ala |