HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63943038A>G , CM000679.2:g.63943038A>G | GRCh38 |
NC_000017.10:g.62020398A>G , CM000679.1:g.62020398A>G | GRCh37 |
NC_000017.9:g.59374130A>G | NCBI36 |
NG_011699.1:g.34881T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.4076T>C MANE Select | ENSP00000396320.1:p.Ile1359Thr | |
ENST00000578147.5:c.4076T>C | ENSP00000463963.1:p.Ile1359Thr | |
NM_000334.4:c.4076T>C MANE Select | NP_000325.4:p.Ile1359Thr | |
XM_005257566.3:c.4076T>C | XP_005257623.1:p.Ile1359Thr |