HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104037701G>T , CM000672.2:g.104037701G>T | GRCh38 |
NC_000010.10:g.105797459G>T , CM000672.1:g.105797459G>T | GRCh37 |
NC_000010.9:g.105787449G>T | NCBI36 |
NG_007069.1:g.53180C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.3008C>A | ENSP00000358748.3:p.Thr1003Asn | |
ENST00000648076.2:c.3143C>A MANE Select | ENSP00000497653.1:p.Thr1048Asn | |
ENST00000353479.9:c.3143C>A | ENSP00000340937.5:p.Thr1048Asn | |
ENST00000369733.7:c.3008C>A | ENSP00000358748.3:p.Thr1003Asn | |
NM_000494.3:c.3143C>A | NP_000485.3:p.Thr1048Asn | |
NM_000494.4:c.3143C>A MANE Select | NP_000485.3:p.Thr1048Asn |