HGVS | Genome Assembly |
---|---|
NC_000024.10:g.6872595A>C , CM000686.2:g.6872595A>C | GRCh38 |
NC_000024.9:g.6740636A>C , CM000686.1:g.6740636A>C | GRCh37 |
NC_000024.8:g.6800636A>C | NCBI36 |
NG_008011.1:g.6433T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651267.2:c.14T>G MANE Select | ENSP00000498344.1:p.Ile5Ser | |
ENST00000215479.10:c.14T>G | ENSP00000215479.5:p.Ile5Ser | |
ENST00000651267.1:c.14T>G | ENSP00000498344.1:p.Ile5Ser | |
ENST00000215479.9:c.14T>G | ENSP00000215479.5:p.Ile5Ser | |
ENST00000383036.1:c.14T>G | ENSP00000372505.1:p.Ile5Ser | |
NM_001143.1:c.14T>G | NP_001134.1:p.Ile5Ser | |
XM_011531472.1:c.14T>G | XP_011529774.1:p.Ile5Ser | |
NM_001364814.1:c.14T>G | NP_001351743.1:p.Ile5Ser | |
NM_001143.2:c.14T>G MANE Select | NP_001134.1:p.Ile5Ser |