HGVS | Genome Assembly |
---|---|
NC_000016.10:g.23417104A>G , CM000678.2:g.23417104A>G | GRCh38 |
NC_000016.9:g.23428425A>G , CM000678.1:g.23428425A>G | GRCh37 |
NC_000016.8:g.23335926A>G | NCBI36 |
NG_021287.1:g.41088T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307149.10:c.1155T>C MANE Select | ENSP00000305442.5:p.Ile385= | |
ENST00000307149.9:c.1155T>C | ENSP00000305442.5:p.Ile385= | |
ENST00000567821.1:n.190T>C | ||
NM_153603.3:c.1155T>C | NP_705831.1:p.Ile385= | |
XR_429680.1:n.1371T>C | ||
XM_017023870.1:c.960T>C | XP_016879359.1:p.Ile320= | |
XR_002957852.1:n.1376T>C | ||
XR_429680.2:n.1376T>C | ||
NM_153603.4:c.1155T>C MANE Select | NP_705831.1:p.Ile385= |