HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104038424T>C , CM000672.2:g.104038424T>C | GRCh38 |
NC_000010.10:g.105798182T>C , CM000672.1:g.105798182T>C | GRCh37 |
NC_000010.9:g.105788172T>C | NCBI36 |
NG_007069.1:g.52457A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.2917A>G | ENSP00000358748.3:p.Ile973Val | |
ENST00000648076.2:c.3052A>G MANE Select | ENSP00000497653.1:p.Ile1018Val | |
ENST00000353479.9:c.3052A>G | ENSP00000340937.5:p.Ile1018Val | |
ENST00000369733.7:c.2917A>G | ENSP00000358748.3:p.Ile973Val | |
NM_000494.3:c.3052A>G | NP_000485.3:p.Ile1018Val | |
NM_000494.4:c.3052A>G MANE Select | NP_000485.3:p.Ile1018Val |