HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104034635A>T , CM000672.2:g.104034635A>T | GRCh38 |
NC_000010.10:g.105794393A>T , CM000672.1:g.105794393A>T | GRCh37 |
NC_000010.9:g.105784383A>T | NCBI36 |
NG_007069.1:g.56246T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369733.8:c.3506T>A | ENSP00000358748.3:p.Ile1169Asn | |
ENST00000648076.2:c.3752T>A MANE Select | ENSP00000497653.1:p.Ile1251Asn | |
ENST00000353479.9:c.3752T>A | ENSP00000340937.5:p.Ile1251Asn | |
ENST00000369733.7:c.3506T>A | ENSP00000358748.3:p.Ile1169Asn | |
NM_000494.3:c.3752T>A | NP_000485.3:p.Ile1251Asn | |
NM_000494.4:c.3752T>A MANE Select | NP_000485.3:p.Ile1251Asn |